GENOMIC INTEGRATED CONSUMER SERVICES

专利摘要:
genomic integrated consumer services. the present invention provides an innovative approach to consumer-driven interaction with sequencing data or genomic information. sequencing data access, for users with a variety of accesses and permissions, can be mediated by a central hub. the hub can also facilitate access to sequencing data for third-party software applications. the hub may also provide data analysis or may have access to the data analyzed to use that data in providing a user interface for a genome holder or for secondary users not holding the system.
公开号:BR112016018547A2
申请号:R112016018547-1
申请日:2015-02-12
公开日:2021-04-13
发明作者:Nicholas A. Nelson；Matthew L. Posard；Jerome Chadel；Kevin P. Rhodes；Kenneth G. Yocum；Kenneth J. Sherman；Sophie I. Coon；Kenneth R. Bloom；Alexander G. Dickinson
申请人:Illumina, Inc；
IPC主号:

专利说明:

[001] [001] This application claims the benefit of Provisional Application No. US 61 / 939,695, entitled "INTEGRATED CONSUMER GEOMIC SERVICES" and filed on February 13, 2014, and Provisional Application No. 62 / 031,556, entitled " CONSUMER BIO-LOGICAL DATA SYSTEM AND METHOD ", filed on July 31, 2014, in which their disclosures are incorporated into this document as a reference for all purposes. BACKGROUND
[002] [002] This disclosure refers, in general, to the purchase, distribution, sharing, display and consumption of genomic information and, more particularly, to the purchase, distribution, sharing, display and consumption of genomic information in a server-client environment.
[003] [003] Traditionally, DNA or personal genome sequencing was beyond the reach of the general public. The machines needed to perform the sequencing were expensive, and usually purchased by large entities, such as research institutions or corporations. In addition, these machines generally take long periods of time to sequence DNA once a sample has been obtained.
[004] [004] In recent years, the cost of sequencing and the time required to perform the sequence have been reduced. Samples that previously required months to sequence can now be sequenced in a matter of days or weeks. Complete genome sequencing or partial genome sequencing can now be performed at a much lower cost, which removes the cost barrier for many consumers.
[005] [005] Several companies have taken advantage of lower costs and shorter sequencing times to provide genomic products or services directly to individual consumers. For example, some companies offer services that allow an individual consumer to trace their offspring based on a DNA sample. Other services include providing statistics based on the DNA sample, such as the likelihood that the individual consumer will contract a specific disease during his lifetime.
[006] [006] However, after using the services of these companies, the individual consumer, or the user, will have to provide another sample of DNA and wait for the sample to be sequenced if the user wishes to use the services of another company. For example, if a user had his DNA sequenced by a company that only traced the offspring, the user would have to have his DNA sequenced by another company if he wanted a report on the diseases that he could contract in his life. This can lead to multiple companies doing duplicate work. This also results in multiple copies of the user's DNA being stored in different locations, which can be difficult for the user to track, and can also raise privacy concerns for a large number of consumers.
[007] [007] In addition, such direct consumer services may provide information in different formats that are difficult to reconcile with other types of information available, such as web-based search information. For example, certain consumers may have difficulty interpreting data data or statistical data without additional context or tools. Other consumers, such as medical professionals, may have little use for basic context information, but may instead want to directly access raw genome data for further analysis. Consequently, there is a need for interaction triggered by consumer tools for various types of sequence data (for example, genome data) and for more effective commerce, distribution, sharing, display and consumption of genomic information. SUMMARY
[008] [008] Sets of procedures are provided in this document for user interaction with sequencing data, genome data or other types of biological data that can be mediated through a central hub that stores and controls access to various interactions with the sequencing data, both by the owner of the sequencing data and by secondary users of the system. For example, interactions can include interactions with social media, data tools, consumer product offerings, health care information, etc. These interactions can help a user to push or pull information about sequencing data from a user interface. In one example, a search engine can be provided, which returns results based on genome information as well as a patient's permissions, which can be considered a "genome avatar" or "genome cookie" which is used for patient interaction with a system. For example, if a specific patient is interested in clinical trials, but not advertising information, the results may deviate towards the permissions granted. The consumer hub system addresses patient concerns about actionability and functionality in the genomic data provided by sequencing facilities.
[009] [009] In addition, sequencing or other biological data is memory intensive. Consequently, an end user may not wish to store such data on a mobile device or a tablet computer. However, as consumers use mobile devices more and more frequently to access the internet, providing a remote hub that facilitates access to data allows consumers to interact with their data without storing the data on their own devices. For example, a user may wish to use an innovative application that compares his genome to a celebrity genome. In such a modality, the user can download the application to his mobile device and grant permission for the application to access his genome data from the hub. Although genome comparison tools may require processing power beyond the capacity of a typical mobile device, the analysis can be performed remotely (for example, through the hub or a processor communicated with the hub), and the application can serve merely as a final container for a graphic output or other application display. In this way, the genome data is not transmitted to and processed by the mobile device, which, as noted, frees up processing and memory.
[0010] [0010] The present sets of procedures also provide access controls and / or granular and dynamic permission to biological data. For example, sequencing data can include certain sequences that are associated with external states, including eye color, hair color, ethnicity, etc. In addition, certain types of sequence analysis, for example, epigenetic data, can provide information regarding the age of the individual being sequenced. Consequently, an individual with personal sequencing data that interacts with the hub, as a consumer, may wish not only to be anonymous, but also to block access to strings and / or data that may include identifying information. To facilitate granular and dynamic permission controls, the present sets of procedures may include tools
[0011] [0011] In certain modalities, the present disclosure provides a system for interacting sequencing data. The system includes at least one server that comprises one or more memory devices that store sequencing data associated with an owner. The server is coupled to a processor configured to execute instructions, which include receiving a first request from a first processor-based device to access the sequencing data; access permission information for sequencing data; provide instructions to the server to allow the first processor-based device to access the sequencing data when permission information indicates that the first processor-based device is associated with the owner of the sequencing data; receiving a second request from a second processor-based device to access the sequencing data; and provide instructions to the server to allow the second processor-based device to access only a portion of the sequencing data when permission information indicates that the second processor-based device is associated with an authorized user for access. limited genome. In another mode, the processor is configured to execute instructions that include: receiving a third request from a third processor-based device to access the sequencing data; and provide instructions to the server to allow the third processor-based device to access only standard information about the sequencing data when permission information indicates that the third processor-based device is not associated with an authorized user. In another embodiment, the first request for a first processor-based device to access sequencing data comprises instructions for performing genome analysis of the genome on the server or another remote device from the first processor-based device and to transmit an output from the genome analysis to the first processor-based device. In another embodiment, the first request does not include a request to send the sequencing data to the first processor-based device. In another mode, the processor is configured to execute instructions that include: receiving a third request from a third processor-based device associated with an external user to access the sequencing data; and transmit a notification to the first based on processor that an external user request was received to access the sequencing data.
[0012] [0012] In another embodiment, the present disclosure also provides a computer-implemented method for interacting with sequence data. The method includes the steps of transmitting a search request to a server related to sequence data associated with an individual, where the sequence data is not stored on the mobile device; transmit identification and permission information associated with the search request; receive a search output that comprises search engine results related to the sequence data based on the search request if a user associated with the search request is allowed to access the sequence data based on the identification and query information - mission; and display the search output. In another mode, the processor is configured to execute instructions that include: receiving an update for permission information from the first processor-based device. The update may include instructions to allow full or partial access to genome information for the third processor-based device or to allow full or partial access to genome information in response to future requests from other external users with similar profiles. res to the external user associated with the third processor-based device, for example, a clinical trial manager and where the update comprises instructions for accepting requests for access to sequencing data for other clinical trial managers. The update may include instructions to deny access to genome information for the third processor based device when the external user is a reseller supplier. Updates may include instructions to deny access to genome information in response to future requests from other external users with profiles similar to the external user associated with the third processor-based device. In certain modalities, the search output may include understanding search engine results for a clinical condition and where the search output is based on an analysis of the sequence data. Search engine results can be sorted or filtered based on analysis of the sequence data. Analysis of sequence data may include identification of one or more mutations or polymorphisms associated with a clinical condition. The search output can include search engine results for genetic markers or pharmaceutical compounds (for example, based on the possibility that the sequence data includes sequences associated with variable pharmacogenic responses to the pharmaceutical compound) . In one embodiment, the method may include receiving a standard search output unrelated to the sequence data if a user associated with the search request is not allowed to access the sequence data based on the identification and permission information.
[0013] [0013] In another embodiment, the present disclosure provides a system
[0014] [0014] In another modality, the present disclosure also provides a consumer system implanted by computer for sequencing data. The system includes at least one processor configured to: receive sequence data and profile data associated with a sequence owner; analyze the sequence data;
[0015] [0015] In another embodiment, the present disclosure also provides a system for analyzing sequencing data. The system includes at least one processor configured to: receive sequence data associated with a sequence owner; receiving privacy data associated with the stream data; receive profile data associated with the sequence owner; receive a request from a secondary user to interact with the sequence data; determine a level of access allowed by the secondary user to the sequence data based on the privacy data; and transmit information related to sequence data or profile data to the secondary user based on the level of access allowed. The level of access allowed may be based on the type of secondary user or may be specific to only a portion of the sequence data.
[0016] [0016] In another embodiment, the present disclosure also provides a method for processing genomic information that includes: dragging, by a user, a genomic representation to a supplier representation in a graphical user interface; through a predetermined percentage of the overlapping genomic representation with a supplier representation,
[0017] [0017] In another embodiment, the present disclosure also provides a system for processing genomic information that includes: a processor configured to: drag a genomic representation to a supplier representation in a graphical user interface; by means of a predetermined percentage of overlapping genomic representation with a supplier representation, determine a supplier-defined data set, where the supplier-defined data set is defined by a supplier; compare the vendor-defined subset of data with a user-defined data set; based on the comparison, determine whether the supplier-defined data set is a subset of the user-defined data set; if the supplier-defined data set is a subset of the user-defined data set: display the supplier's genomic offers in the graphical user interface; if the supplier-defined data set is not a subset of the user-defined data set:
[0018] [0018] In another embodiment, the present disclosure also provides a method for processing genomic information that includes: storing transaction data for a first user in a central repository, where the transaction data for the first user is stored created as the first user completes a first user transaction, in which the first user transaction includes at least one of the following: viewing a supplier, viewing a supplier offer and purchasing a supplier offer; store second user transaction data in a central repository, where second user transaction data is created as the second user completes a second user transaction, where the second user transaction includes at least one of the following : view a supplier, view a supplier offer and purchase a supplier offer; compare the first user transaction data with the second user transaction data; pushing a notification to the second user in a graphical user interface with a supplier offer based on the comparison.
[0019] [0019] In another embodiment, the present disclosure also provides a system for processing genomic information that includes: a processor configured for: storing transaction data of a first user in a central repository, in which the transaction data of second users are created as the first user completes a first user transaction, in which the first user transaction includes at least one of the following: viewing a supplier, viewing a supplier offer and purchasing a supplier offer; store transaction data for a second user in a central repository, where transaction data for a second user is created as the second user completes a second user transaction, where the first user transaction includes at least one of the following : view a supplier, view a supplier offer and buy a supplier offer; compare first user transaction data with second user transaction data; push a notification to the second user in a graphical user interface with a supplier offer based on the comparison.
[0020] [0020] In another embodiment, the present disclosure also provides a method for processing genomic information that includes: signaling a user, through a graphical user interface, to select at least a portion of the user's genomic information - River; upon receiving the selection of at least a portion of the user's genomic information, signal the user, through the graphical user interface, to indicate a level of sharing for the selection of at least a portion of the user's genomic information; and based on the selection of at least a portion of the user's genomic information and the indicated level of sharing, in order to allow a second user to view the user's genomic information.
[0021] [0021] In another embodiment, the present disclosure also provides a method for processing genomic information that includes: receiving a user DNA sequence; receive phenotype information from the user; associate the user's DNA sequence with the user's phenotype information; store a user's DNA sequence and the user's phenotype information in a central repository; generate an icon in a graphical user interface through an application on a client device; and create an icon pointer to the stored user DNA sequence.
[0022] [0022] In another embodiment, the present disclosure also provides a computer program product, in which the computer program product comprises machine-readable instructions to: drag, by a user, a genomic representation to a region. supplier presentation in a graphical user interface; using a predetermined percentage of overlapping genomic representations with a supplier representation, determine a supplier-defined data set, where the supplier-defined data set is defined by a supplier; compare the vendor-defined subset of data with a user-defined data set; based on the comparison, determine whether the supplier-defined data set is a subset of the user-defined data set; if the supplier-defined data set is a subset of the user-defined data set: display supplier genomic offers in the graphical user interface; if the supplier-defined data set is not a subset of the user-defined data set: identify portions of the supplier-defined data set that are not a subset of the user-defined data set; and display, in the graphical user interface, the data set defined by the supplier, which is not a subset of the data set defined by the user. BRIEF DESCRIPTION OF THE DRAWINGS
[0023] [0023] These and other resources, aspects and advantages of this specification will be better understood when the following detailed description is read with reference to the attached drawings, in which the similar characters represent similar parts throughout the drawings, in which:
[0024] [0024] Figure 1 is a diagrammatic overview for a system that incorporates a consumer biological data hub in accordance with the present invention;
[0025] [0025] Figure 2 is a diagrammatic overview for a system that incorporates a hub as part of a networked computing environment according to the present invention;
[0026] [0026] Figure 3 is a diagrammatic overview of a hub control module of the type discussed with reference to Figure 2;
[0027] [0027] Figure 4 is a flow diagram of a method of interaction between a user or primary consumer of sequencing data, the biological data consumer hub and one or more secondary users that can be performed together with the system discussed with reference to Figure 1;
[0028] [0028] Figure 5 is a flow diagram of a method for providing access to particular sequencing data to secondary users through the hub of the type discussed with reference to Figure 1;
[0029] [0029] Figure 6 is an example of a display screen of a user interface for secondary user access to sequencing data according to the flow diagram of Figure 5;
[0030] [0030] Figure 7 is a flowchart of a method for providing search results based on sequencing data through the hub of the type discussed with reference to Figure 1;
[0031] [0031] Figure 8 is an example of a screen displaying a user interface to interact with the sequencing data belonging through the hub of the type discussed with reference to Figure 1;
[0032] [0032] Figure 9 is an example of a screen displaying a user interface to configure a user interface for interacting with sequencing data pertaining through the hub of the type discussed with reference to Figure 1;
[0033] [0033] Figure 10 is an example of a screen displaying a user interface to configure a user interface for interacting with sequencing data pertaining through the hub of the type discussed with reference to Figure 1;
[0034] [0034] Figure 11 is an example of a display screen that shows a selector of genome privacy settings to interact with sequencing data through the hub of the type discussed with reference to Figure 1;
[0035] [0035] Figure 12 illustrates a graphical user interface according to some modalities;
[0036] [0036] Figure 13 illustrates a graphical user interface according to some modalities;
[0037] [0037] Figure 14 illustrates a graphical user interface according to some modalities; and
[0038] [0038] Figure 15 illustrates a graphical user interface according to some modalities. DETAILED DESCRIPTION
[0039] [0039] As used in this document, the singular forms "one / one", "and" and "a / o" include references in the plural except when the context clearly determines otherwise. Thus, for example, reference to "a sequence" can include a plurality of such sequences, and so on. All technical and scientific terms used in this document have the same meaning as commonly understood by an individual of ordinary skill in the technique to which the invention belongs, except where clearly indicated otherwise.
[0040] [0040] Turning now to the drawings, and with reference primarily to Figure 1, a consumer data hub system 10 is illustrated diagrammatically. System 10 includes a biological data consumer hub 12 that serves as a coordinating center to interconnect multiple users, services, features and data. For example, in one embodiment, hub 12 serves as a central store for sequencing data 14 from a plurality of individual owners. In some embodiments, the sequencing data 14 is generated from or belongs to consumers 20 in system 10. That is, the sequencing data 14 is personal sequencing data. In other modalities, the sequencing data 14 belong to research institutions or corporate entities instead of individuals, and these institutions can also be considered consumers 14 in such modalities.
[0041] [0041] For example, it must be understood that the sequencing data 14 can be generated from the biological sample of the consumer himself and, therefore, can represent all or part of the genome of the consumer himself. Consequently, the consumer 20 may also be the owner of the sequencing data 14. In certain embodiments, the consumer 20 may have or control access to the sequencing data 14 of biological samples that do not belong to them. , for example, family members or non-human data. For example, sequencing data 14 can be generated from a non-human biological sample of domestic animals (eg, cats, dogs, birds), agricultural animals, plants, food crops, samples laboratory, cultures obtained (for example, smeared from a throat or wound) from an individual, etc. In addition, the sequence data 14 may represent all or just a part of a genome sequence and, in addition, may include DNA, cDNA, hnRNA, mRNA, rRNA, tRNA, genomic cRNA, alternatively linked mRNA, RNA small nucleolar (snoRNA), microRNAs (miRNA), small interference RNAs (siRNA), piwi RNAs (piRNA),
[0042] [0042] In certain modalities, the sequencing data 14 may not belong to any individual. For example, sequencing data 14 from unclaimed or owned (eg, historical) biological samples may be of research interest. In such cases, the sequencing data 14 may be dedicated to the public or may belong to the research institute or another entity that gathered the samples and made the sequencing possible. Furthermore, it is anticipated that hub 12 can also facilitate interaction with non-human sequencing data 14,
[0043] [0043] In addition to facilitating access to sequencing data 14 for a consumer 20, hub 12 can also facilitate access to consumer sequencing data 14 by secondary users 30. Such secondary users 30 may include medical providers , hospitals, insurance companies and pharmaceutical companies. These secondary users 30 may have research or commercial interest in certain sequencing data 14. Furthermore, the consumer 20 can also be a secondary user 30 when accessing data 14 not belonging to the same. For example, a consumer 20 may wish to access sequencing data from potential relatives for genealogical purposes. In such modalities, consumer 20 can be both a primary user and a secondary user 30.
[0044] [0044] Access to data can also be requested by third-party applications, such as social media applications 32, search engines 34, software applications (for example, "apps") that can include various data analysis tools 36 and suppliers 38, including suppliers of consumer products (for example, purchasing applications). For example, if a consumer is a member of a social media group for a specific disease (for example, all members share a common sequence variant), hub 12, which operates under permissions selected by consumer, can allow access to sequence data
[0045] [0045] In the context of search engines 34, sequencing data 14 can be provided as an entry for relevant searches, as provided in this document. In addition, sequencing data can also be used as input to data analysis tools 36, which can be a part of complementary applications that a consumer 20 may wish to download. Such applications can be focused on providing medicinally relevant analysis, while other types of applications can be innovative applications that a consumer can purchase through an application store. In such modalities, applications can interact with the sequencing data in a manner similar to a secondary user 30. For example, in one embodiment, an application request permission to access the consumer's sequencing data 14. Depending on the type application, permissions can be adapted to the analysis. For example, certain data analysis tools 36 can request location information as well as limited sequencing data 14. In this way, a particular tool 36 can also join with local social media applications, a consumer resale product or service 32.
[0046] [0046] Hub 12 can be configured to receive and store sequencing data 14, for example, hub 12 can receive sequencing data 14 from a sequencing facility
[0047] [0047] Figure 2 is an example of a hub 40 management module and system that can be used in conjunction with hub 12 in Figure 1. In the represented embodiment, certain features of hub 12 can be deployed as part of a cloud computing environment that includes a plurality of distributed nodes
[0048] [0048] In one embodiment, hub management module 40 is responsible for handling data communication with participants in system 10. Hub 12 is configured to communicate with multiple users, including device users to generate biological data. These data may include sequence data generated by means of a sequencing device 44, which, in particular modes, may include a device 18 that includes a module for accepting a biological sample and generating sequence data and a associated computer 20 that includes executable instructions for analyzing or communicating sequence data to hub 12. It should be understood that, in certain embodiments, the sequencing device 44 can also be deployed as an all-in-one device. one. Sequencing device 44 is configured to communicate with hub 12 via a suitable communications link 50. Communication with hub 12 for sequencing device 44 as well as other hub users (for example, consumers 20 , secondary users 30) may include communication via a local area network (LAN), a general wide area network (WAN) and / or a public network (for example, the Internet) via the communications link 50. In particular, communication link 50 sends sequencing data 26 and, in certain modes, authentication information 54 to hub 12. Authentication information can confirm that the sequencing device
[0049] [0049] As noted, hub 12 can serve multiple users or customers with associated devices, for example, devices 44a, 44b, and 44c. In addition, hub 12 can also be accessed by other types of customers, such as secondary users 30 or third-party software owners (see Figure 1; for example, search engines 34, suppliers 38, etc.). As a result, hub 12 can provide different types of services depending on the access level of the particular customer. A sequencing client may have access to data storage and analysis services, whereas a secondary user 30 may have access only to shared or public streams. Third-party software holders 34 can negotiate with sequencing customers to determine appropriate access privileges. For example, open source software may be offered free of charge or on a limited license basis, while other types of software may be offered on a variety of fee or subscription basis.
[0050] [0050] Once the sequencing data 14 is communicated to hub 12, additional interaction with, and access to, sequencing data 14 may not necessarily be coupled to the sequencing device 44. Such modalities may be beneficial in modalities where the owner of the biological sample and / or the sequence data has contracted the sequencing, for example, for a 39-core sequencing facility. In such modalities, the primary user may be the owner (for example, the consumer 20) as long as the core lab facility associated with the sequencing device 44 is, at most, a secondary user 30 after the sequencing data 14 is communicated to hub 12. Consequently, consumer 20 can also provide permission information 56 for additional access to the sequencing data 14 for secondary users 20, which can be predefined and communicated simultaneously with the sequencing data 14 (by means of the sequencing device 44). Alternatively or in addition, consumer 20 can also directly provide permission information 56. Consumer 20 can also provide profile information 58 (for example, health information, personal characteristics) that is associated with sequencing data 14.
[0051] [0051] In certain modalities, the sequence data can be accessed through security parameters such as a password-protected customer account at hub 12 or association with a particular institution or IP address. Sequencing data 14 can be accessed by downloading one or more files from hub 12 or by logging into a web-based interface or software program that provides a graphical user view where the sequence data is represented as text, images and / or hyperlinks. In such a mode, the sequencing data 14 can be provided to the consumer 20 or secondary user 30 in the form of data packets transmitted via a link or communications network.
[0052] [0052] As used in this document, the sequencing data 14 can refer to data obtained during a sequencing battery, which refers to a repetitive process of physical or chemical steps that are performed to obtain indicative signals of the order of monomers in a polymer. The signals can be indicative of an order of monomers in single monomer resolution or lower resolution. In particular embodiments, the steps can be initiated at a nucleic acid target and performed to obtain signals indicative of the order of bases in the nucleic acid target. The process can be carried out until its typical completion,
[0053] [0053] The sequencing cycle can be implemented using the sequencing device 44 according to any set of sequencing procedures, such as those that incorporate synthesis sequencing methods described in the Patent Publication documents in US 2007 / 0166705; U.S. 2006/0188901; U.S. 2006/0240439; U.S. 2006/0281109; in U.S. 2005/0100900; U.S. Patent 7,057,026; WO 05/065814; WO 06/064199; WO 07 / 010.251, the disclosures of which are incorporated in this document, as a reference in their entirety. Alternatively, sequencing by sets of ligation procedures can be used in the sequencing device 44. Such sets of procedures use DNA ligase to incorporate oligonucleotides and identify the incorporation of such oligonucleotides and are described in the US patent document. 6,969,488, US Patent 6,172,218; and U.S. Patent 6,306,597; whose revelations are incorporated in the
[0054] [0054] Sequencing device 44 can generate sequencing data 14 as base call files. Both the sequencing device 44 and hub 12 can process the base call files to perform Amplicon, new set, Library QC, metagenomics, resequencing and smallRNA discovery. Other types of data analysis may include clinical analysis, such as GeneInsight. In particular modalities, data analysis can be performed according to industry standards or regulatory agency, such as CLIA. The files generated from various analyzes can take the form of FASTQ files, binary alignment files (bam), * .bcl, * .vcf and / or * .csv files. The output files can be in formats that are compatible with the software for viewing, modifying, annotating and manipulating available sequence data. Consequently, the accessible sequencing data 14 as provided in this document may be in the form of raw data, partially processed data or processed data and / or data files compatible with specific software programs. In addition, the output files can be compatible with other data sharing platforms or third-party software.
[0055] [0055] Figure 3 is a block diagram of hub node 42. Hub node 42 can be deployed as one or more of a personal computer system, server computer system, computer
[0056] [0056] Memory architecture 62 may include at least one program product that has a set (for example, at least one) of program modules deployed as executable instructions that are configured to perform the functions of the present sets of procedures . For example, executable instructions 68 may include an operating system, one or more application programs, other program modules, and program data. Generally, program modules can include routines, programs, objects, components, logic, data structures, and so on, that perform particular tasks or implement particular abstract data types. The program modules can perform the functions and / or methodologies of the sets of procedures as described in this document including, but not limited to, analysis of primary sequence data and secondary sequence analysis.
[0057] [0057] The components of node 42 can be coupled by an internal bus 70 that can be deployed as one or more among several types of bus structures, including a memory bus or memory controller, a peripheral bus, an accelerated graphics port and a local processor or bus using any of a variety of bus architectures. As an example and not a limitation, such architectures include Industry Standard Architecture (ISA) bus, Micro Channel Architecture (MCA) bus, Enhanced ISA bus (EISA), local Video Electronics Standards bus Association (VESA) and Peripheral Component Interconnect (PCI) bus.
[0058] [0058] Node 42 can also communicate with one or more external devices such as a keyboard, a pointing device, a display 72, etc .; that enable an operator to interact with hub 12; and / or any devices (for example, network card, modem, etc.) that enable node 42 to communicate with one or more other computing devices. Such communication can occur through I / O interfaces 74. However, nodes 42 of hub 12 can communicate with one or more networks as a local area network.
[0059] [0059] Hub 12 can run user interaction software (for example, through a web or application based interface platform) that provides a graphical user interface for users (for example, consumers 20 and users secondary 30) and facilitates access to sequence data 14, a community or group of researchers, data sharing or analysis programs, available third-party software and user selections for load balancing and instrument definitions. For example, in particular modes, the settings for a sequencing cycle on a sequencing device 44 can be defined via hub 12. Consequently, hub 12 and an individual sequencing device 44 (or consumer device / secondary user device) are capable of two-way communication. Such a modality can be particularly useful for controlling parameters of a remote sequencing cycle.
[0060] [0060] As noted, hub 12 can serve multiple users or customers with associated devices, for example, devices 44a, 44b, and 44c. In addition, hub 12 can also be accessed by other types of customers, such as secondary users 30 or third-party software owners (see Figure 1; for example, search engines 34, suppliers 38, etc.). Consequently, hub 12 can provide different types of services depending on the level of access and permissions 56 of the particular customer. A sequencing client may have access to data storage and analysis services, whereas a secondary user 30 may have access only to shared or public sequences. Third-party software owners can negotiate with consumers 20 to determine appropriate access privileges to the sequencing data 14.
[0061] [0061] As provided in this document, system 10 facilitates the interaction of consumers 20 and / or owners of sequencing data 14 with hub 12 and employees or secondary users (for example, secondary users 30). To this end, Figure 4 is a flow diagram of the trajectories of some exemplary interactions. Method 100 can encompass any viable subset or combination of the steps or interactions represented. In a fashion, method 100 can start with the supply of a biological sample in block 102. For example, the sample can be supplied to the sequencing device 44, which in turn obtains sequencing data 14. When the sequence data 14 is obtained, sequencing device 44 communicates sequence data 14 to hub 12, which receives sequence data at 104. Alternatively, consumer 20 can directly supply data 14 at block 106.
[0062] [0062] Sequence data 14 at hub 12 can be stored and / or further processed. For example, hub 12 can analyze sequence data 14 (block 108) or provide instructions to a networked device to perform the analysis. A user can define parameters for data that is received by hub 12. For example, the user can indicate which analyzes should be performed remotely, for example, through hub 12. In one mode, parameters can be defined so that a primary analysis (for example, background identification) is performed locally while a secondary analysis (for example, genome set) is performed at hub 12. Alternatively, a secondary user 30 may be instructed or allowed to perform data analysis (block 110). The results of the data analysis can be stored for later access by the consumer 20 and / or secondary user 30.
[0063] [0063] System 10 also provides sets of procedures to authorize secondary users, which include access and / or permission instructions that can be defined by the user (block 114) and received on the sequencing device 44 (block 116). If the instructions indicate that the sequencing data 14 must be shared with one or more secondary users 30, the instructions can be communicated by hub 12 to notify the one or more secondary users 30 (block 118). Access is then implemented according to the instructions. For example, if the instructions include a notification provision, a notification is sent (block 118) to the secondary user, which can be received (block 119) in the form of an email or message on a computing account at cloud, for example. The information provided by the consumer 20 may also include health and / or profile information (block 120). This information, in turn, is received at hub 12 (block 122) and can be communicated to secondary users along with sequencing data 14, as provided.
[0064] [0064] Access to the sequencing data 14 for the consumer can be facilitated by hub 12 through a request by the consumer 20 (block 130). Upon receipt of the access request by the consumer 20 (block 142), hub 12 authenticates the request (block 144) before transmitting data 14 (block 146), which is received by the device associated with the appropriate consumer (block 150) ). In other embodiments, the sequence data access instructions can also define permissions for partial access at least by a secondary user 30 who sends a request (block 140) to access the sequence data that is received by the hub 12 (block 142). The request is authenticated (block 144) based on the instructions in block 114 and the sequence data 14 is communicated according to the instructions in block 146. Secondary user 30 can access or receive the sequence data (block
[0065] [0065] In addition to mediating intercommunication between individual consumers 20 and secondary users 30, hub 12 can act as an intermediary to gather information and / or data related to groups of consumers and their sequence data 14. For example, Figure 5 it is a flow diagram for a method 200 of assembling a genome data set (for example, sequencing data 14) with a particular common resource among them. In block 102, hub 12 received a secondary user request to access any genome data with a common resource of interest. The resource of interest may be the presence or absence of a particular sequence of interest, such as a gene or gene variant of interest, a gene mutation, an SNP or a microsatellite sequence. In other modalities, the common resource of particular interest can be related to consumer profile information (for example, profile information 58). For example, a secondary user 30 may be a clinical trial manager looking for participants in a particular age range, ethnicity, etc. In addition, the clinical trial manager can search for participants with or without certain clinical profiles. In one embodiment, the profile may be cancer survivors who have been in remission for 3 or more years. In such a modality, the clinical trial can be related to data mining of sequence data from 14 such individuals to search for beneficial sequences or beneficial epigenic changes in DNA. In one embodiment, the search can be a search for any open access strings. That is, the search request can only include definitions of particular permissions as a search parameter. Hub 12 can compare the stored genome data and, if appropriate, profile information, for the request (block 204) to determine if there are any compatible genome sequences.
[0066] [0066] While hub 12 can store a sequence 14 genome dataset associated with consumers 20 compatible with the desired profile, not all stored sequences can be accessible to secondary users 30 based on permission settings sequence owners. At block 206, hub 12 can determine which individual strings allowed access by the secondary user in question. In addition, permits can be granular. That is, certain strings can be opened for all secondary users, other strings can be opened for all searches, but not for commercial use. In other modalities, certain sequences may be accessible only to one institution, but not to other institutions of the same type. Consequently, the set of strings that is compatible with the search request and that has permissions that grant secondary user access (generated in block 208) may be smaller than the total set of compatible strings, regardless of permissions. In block 210, hub 12 can allow secondary user 30 to access relevant genome data. In addition, hub 12 can initiate contact with inaccessible members of the larger pool to notify them of a request for access and indicate that the request has been denied. In such a modality, hub 12 can also receive updated privacy settings if consumer 20 changes their privacy to allow access.
[0067] [0067] In another mode, the secondary user may wish to access, not the sequence data, but the consumer's contact information. That is, based on a sequence profile, the secondary user 30 may wish to market products intended for the consumer to a specific user. For example, if a consumer product company has determined that a sequence variant is associated with dandruff, the secondary user 30 may wish to market products against dandruff to consumers with the variant. In other modalities, hub 12 can facilitate contact with consumers 20 to maintain consumer privacy.
[0068] [0068] The request can be structured as a continuous search, so that, as new genome sequences are received by hub 12, they are automatically evaluated to determine whether they include the resource of interest and definitions of permits. are adequate. If applicable, the data is forwarded to the secondary user. If this is not the case, the consumer 20 may be notified that a contrasting request for his data has occurred. In addition, as a consumer 20 interacts with hub 12 for configuring genome information, the configuration process can include automatic assessment of any contrasting requests by sequence data that their data and / or profile satisfy. In a modality, requests are "sent by push" to the configuration screen, and the consumer 20 can choose in a positive or negative way, as desired.
[0069] [0069] For secondary users 30 who request genome or sequencing data 14 as part of being a member of the hub system 10, hub 12 can provide a user interface for data interaction. Such services can be fee-based or subscription-based, depending on the type of secondary user. Figure 6 is an example of a graphical display screen 250 for interacting with the available sequence data 14. The graphical display screen 250 may include selectable menu options for selecting particular genomes and / or accessing hub data 12 related to the selected genomes. In addition, the displayed information may include links or linkable icons 254 for relevant data analysis applications or additional information related to the represented portion of the sequence data. Linkable icons 254 can be linked to relevant apps or applications. Clicking on the link can take the user to an application store for data analysis or other tools from third-party suppliers. Since users will have a wide variety of data sets stored in the cloud, varying, both in size and in the nature of their content, different applications may be suitable for different types of data sets. The display screen 250 can also display links for management notification 260 and sharing 262.
[0070] [0070] In addition to mediating the intercommunication between consumers 20 and secondary users 30, hub 12 can act as an intermediary for software applications or other tools that can normally act in a sequence independent manner. However, in certain modalities, providing sequencing data 14 as an input for such tools can improve or target specific outputs. For example, Figure 7 is a flow diagram for a sequence dependent search method that can be mediated by hub 12. Consumer 20 or secondary user
[0071] [0071] In one embodiment, a search engine output can be classified according to sequence data 14. If the sequence data indicates that consumer 20 has a particular variant associated with breast cancer, such as BRCA1, the results Search terms for the term "breast cancer" can be classified to include or weight BRCA1 as a term above other breast cancer results. This weighting is carried out without any additional input from the consumer 20. In this way, a consumer 20 does not need to be medicinally sophisticated in order to receive targeted research results. Hub 12 can include its own search engine, or method 300 can serve as an intermediary for conventional search engine results. For example, a Google search result for "breast cancer" can be sent to hub 12 and then sorted and / or filtered by hub 12 according to sequence data 14.
[0072] [0072] In another mode, the search engine output can be filtered to include or execute certain results. For example, if sequence data 14 indicates that consumer 20 has a characteristic mutation in a CYP2D6 gene that is indicative of reduced codeine metabolism, its results for a person
[0073] [0073] Hub 12 serves as a coordinating center for sequence data 14 from multiple consumers 20 for the benefit of consumers themselves, as well as interested third parties. A consumer 20 can be medicinally sophisticated or lay, and hub 12 can be configured to create a customized user interface for a variety of different types of stream data consumers. Figures 8 to 10 are examples of graphical user interfaces displayed that guide the consumer 20 through the interaction with the sequence data 14 and the hub 12.
[0074] [0074] Figure 8 is an example of an introduction screen displayed
[0075] [0075] Figure 9 is an example of a configuration screen displayed 410 that allows a user to follow a standard or automated configuration according to a profile 412 that best suits their needs. For example, profiles may include a relatively unsophisticated user, "Joe," with no sick profile.
[0076] [0076] In addition to configuring a user interface, consumer 20 can interact with hub 12 in defining data and profile permissions. Figure 11 is an example of an example of a granular and dynamic permission icon 450. In the represented mode, the granularity can be defined at the secondary user level. For example, the 450 icon can be a pie or wheel that includes selectable regions for specific secondary users 30. Clicking on a particular region, such as "health care providers" 452, a list of available permissions and restrictions is displayed. They can be changed or customized depending on the consumer's preferences 20. The consumer 20 may wish to have free access to the sequence for certain health care providers and access is limited to the sequence for insurance companies 454 (for example, sufficient access to regions of interest to provide documentation for insurance coverage for testing or procedures), and more limited access for consumer product companies 460. To guide the user through various privacy settings , hub 12 can include stored privacy profiles, for example, users who are similar to the user configuration profiles in Figure 10.
[0077] [0077] Alternatively or additionally, the 450 icon can be configured to facilitate the user to select stretches of sequence for access or permissions. In the case of an entire genome, the 450 icon can be a representation of chromosomes, and the consumer 20 can browse through the chromosomes to select areas to share with secondary users 30. Consequently, only certain portions of the sequence data 14 can be shared. In one modality, the consumer 20 can share only certain chromosomes, only certain gene sequences, only areas of the genome associated with the transcribed genes, only unsatisfactory DNA, etc. Such sharing can also be granular, and can be customized for individual secondary users 30, as shown in Figure 11. Additionally, the 450 icon can be integrated with the 402 icon, so that selecting or dragging the 402 icon also selects the associated permissions. In this way, consumer 20 can interact with hub 12 through a genome or cookie avatar that includes data, profile information and privacy settings. In addition, it should be understood that privacy settings are dynamic, and access to sequence data 14 can be granted or denied at any time.
[0078] [0078] The present disclosure provides a method for presenting or displaying a graphical user interface suitable for purchasing, distributing, sharing, displaying and consuming genomic information. The graphical user interface can be displayed or presented to a user or an individual consumer on a client machine. The client machine can be a mobile device, such as a smart phone, a tablet or laptop computer, etc. The client machine can be a non-mobile device, such as a personal desktop computer, among others. In some modalities, the graphical user interface is displayed or presented on the client machine by an application or program that runs on the client machine. For example, an application on a mobile device can be used to display the graphical user interface to a user.
[0079] [0079] The graphical user interface is useful for previewing or purchasing genomic products or services in a client-server environment, such as the client that communicates with the server through a network connection. The network connection can include the internet, or local intranet, among others.
[0080] [0080] The graphical user interface is particularly useful for a client-server environment that facilitates the purchase, distribution, display, sharing and consumption of genomic information. Genomic information is highly personal and confidential, so any transmission of genomic information between the client and the server, or between the client and other clients, must be secure and controlled by the individual consumer. Such controlled transmission or distribution of genomic information may use encryption or other known security techniques to prevent unauthorized access by third parties, such as hackers. User accounts can be created by individual users to facilitate the restriction of unauthorized access to the individual user's genomic information,
[0081] [0081] The present disclosure can be implemented in several ways, such as a method, system, device, graphical user interface or a computer program product. The computer program product may include machine-readable code stored on a machine-readable storage medium, such as a hard disk, DVD-ROM, CD-ROM, solid state drive, or any other medium that can store digital information. These computer-readable storage devices need not be physical devices. These computer-readable storage devices can also be virtualized storage devices, where the logical drives are physically located across multiple machines. The computer program product can also expand across geographically diverse locations. For example, the computer program product may include a client machine interface as well as a database and remote server that is accessed through the customer machine interface.
[0082] [0082] Certain graphical user interfaces that can be used in conjunction with genomic information are shown in Figures 12 to 15. In a graphical user interface, genomic information can be represented by a genomic representation. For example, a person's entire genome sequence can be represented by an icon in an application window that is generated by an application on a client machine, such as a mobile phone. This icon, or genomic representation, can be used to identify the individual consumer or user for suppliers offering genomic services, such as genealogy. In some modalities, the genomic representation itself retains the genomic information of the individual consumer. In some embodiments, the genomic representation can be an icon that points to data that is stored in a remote location, such as a server, or locally on the client machine, where the data includes genomic information. This icon can, in some modalities, include genotype information, phenotype information or a combination of genotype and phenotype information. Since the genomic representation and the genomic information it includes may include private information, security measures, such as cryptography, should be used whenever the genomic representation, or the genomic information to which the genomic representation, stored, as well as communication involving genomic representation or genomic information.
[0083] [0083] In some modalities, a method for processing genomic information includes receiving a user DNA sequence; receive phenotype information from the user; associate the user's DNA sequence with the user's phenotype information; store a user's DNA sequence and the user's phenotype information in a central repository; generate an icon in a graphical user interface through an application on a client device; and create an icon pointer to the stored user DNA sequence.
[0084] [0084] Different suppliers can provide different genomic services. One supplier can provide genealogy services, while another supplier can provide health and wellness services. These different services may require different genomic information in order to perform their respective genomic services. For example, Supplier A may require Gene X and Gene Y to provide Services L, while Supplier B may require Gene Z to provide Services M. In this case, an individual user may not want to share your genomic information if the genomic information includes your entire genome sequence. In some embodiments, a graphical user interface will include controls or settings that allow the user to modify the level of sharing and which subsets of their geometrical information to share.
[0085] [0085] Following the example above, the user's genomic information is supposed to include the user's entire genomic sequence, or the user's complete DNA sequence. The user is not comfortable sharing Genes Y and Z, as these genes indicate that the user is likely to contract a debilitating disease in his life. By establishing the appropriate privacy settings in the graphical user interface, third parties cannot view the user's Y and Z Genes. In fact, as a standard definition, it may be desirable for the entire genomic sequence and / or user identification information to be defined as private, which means that third parties will not be able to view the entire genomic sequence or user identification information without before getting permission from the user.
[0086] [0086] Since the user has not shared Genes Y and Z with third parties, and since Supplier A requires Gene Y and Supplier B requires Gene Z, the user will not be able to use the services of
[0087] [0087] In some modalities, a method for processing genomic information includes signaling a user, through a graphical user interface, to select at least a portion of the user's genomic information; upon receiving the selection of at least a portion of the user's genomic information, signal the user, through the graphical user interface, to indicate a level of sharing for the selection of at least a portion of the user's genomic information ; and based on the selection of at least a portion of the user's genomic information and the indicated level of sharing, in order to allow a second user to view the user's genomic information.
[0088] [0088] The user can preview, browse or read a brief description of the supplier services presented in the second application window generated by the application. In some modalities, the preview or brief description of the supplier's services can indicate which genomic information, or which genes must be shared before the supplier's services can be used. Such services may include applications for data analysis, as well as applications for innovation and entertainment, and purchasing or vendor applications. For example, applications can include applications for health analysis. In another example, applications may include applications to purchase consumer goods that are customized based on sequence data 14. For example, a consumer may choose to purchase an item of clothing embroidered with specific sequences of their own personal DNA or phenotypes specific cases, in which case, the hub would release such strings to the consumer goods manufacturer to be incorporated into the customized product. Examples of such products may include socks, shirts, hats, bags, etc. of DNA. In addition, the application may include diet or fitness applications. For example, the application can render personalization and dietary recommendations for restrictions based on sequence data 14 and analysis of the presence or absence of allergies.
[0089] [0089] The supplier, or the supplier services, can be represented by the supplier icon or a supplier representation. Following the example above, Supplier A can be displayed as an icon in the graphical user interface. The supplier representation, or the supplier icon, can include a graphic representation of the supplier, such as a trademark of the supplier or other identifiable graphics that identify the supplier. The supplier's representation may also include a graphic representation of the supplier's services, such as a thumbnail view of the product, or a registered trademark of the product or service.
[0090] [0090] In some modalities, a user can drag or drop the genomic representation, or icon, over the supplier representation to determine whether the supplier can provide supplier services to the user. For example, a user can drag the user's genomic representation to the supplier representation, and the supplier representation can be grayed out to indicate that the supplier services are not available at the current level of sharing. , and a sign on the graphical user interface can indicate to the user which subset of geometrical information is needed to use vendor services. The sign can also indicate which subset of genomic information has been shared, and which remaining genomic information is to be shared. Following the example above, if the supplier is Supplier A, the sign can indicate to the user that Gene X has been shared, however, Gene Y must also be shared to use Service L. In the example of customization of consumer goods, the sign can indicate which genes are shared and which are therefore available for use for personalization.
[0091] [0091] Especially on a small touchscreen client machine, such a mobile device that is devoid of a hardware key, dragging or dropping a genomic representation completely on top of a supplier representation can be laborious. In such cases, it may be desirable to use a percentage
[0092] [0092] In some modalities, a method for processing genomic information includes dragging, by a user, a genomic representation to a supplier representation in a graphical user interface; by means of a predetermined percentage of the overlap of genomic representation with a supplier representation, determine a supplier-defined data set, where the supplier-defined data set is defined by a supplier; compare the vendor-defined subset of data with a user-defined data set; based on the comparison, determine whether the supplier-defined data set is a subset of the user-defined data set; if the supplier-defined data set is a subset of the user-defined data set: display supplier genomic offers in the graphical user interface; if the supplier-defined data set is not a subset of the user-defined data set: identify portions of the supplier-defined data set that are not a subset of the user-defined data set; display, in the graphical user interface, the data set defined by the supplier, which is not a subset of the data set defined by the user.
[0093] [0093] In some modalities, it may be advantageous for a central server to store a user's genomic information. This central server, or centralized database, can be spread across several geographic regions, so that multiple servers can carry redundant data for data disaster situations or to maintain a percentage of higher productive time. The data stored on the central server can be accessed by individual users, or by suppliers. For example, if a supplier needs to view a user's genomic information to run genomic offers or more, customize the genomic offers, the supplier would communicate with the central server to access the user's genomic information, assuming that the user has allowed the supplier to view the user's geometric information.
[0094] [0094] Similar to how an individual user has a user account, a supplier can have a supplier account. Having a vendor account will allow the central server to authenticate the vendor, and allow the vendor to access a user's specific genomic information if the specific user communicates to the server that the vendor account is allowed to view the user's genomic information , or a subset of them. The supplier account can also be used to authenticate the supplier when the supplier wants to add new genomic offers or supplier services to the supplier account.
[0095] [0095] An individual user can share his genomic information with other individual users. For example, an individual user can share his genomic information with his brother, parents or close friends — who also have individual user accounts to access an instance of the application on their respective client machines. In this sense, there may be a network of
[0096] [0096] Various levels of sharing can be applied to suppliers as well. For example, an individual user may allow a supplier to access and view the individual user's genomic information in the course of providing generic supplier service offerings. The individual user can also allow the supplier to indicate to other suppliers that the user
[0097] [0097] All of this transaction data, that is, the data that contains all the genomic offers that the individual user has used or previewed, can be stored on a central server. The central server does not have to be physically a machine, but it can be geographically diverse with multiple machines in different locations. The central server can also include the geometrical information of individual users, where users access and control their respective genomic information through a graphical user interface generated by an application that runs on a client machine. With a large number of individual users storing their transaction data and genomic information on the central server, the central server can act as a form of library. The Genomics Library can be accessed by various organizations for a wide variety of reasons.
[0098] [0098] For example, with sufficient permission from individual users, a research institution interested in using genomes from the population may want to access the Genomics Library to obtain a sufficient sample size of the genomes in a specific metro-politan area. The data in the Genomics Library can be deleted so that personally identifiable information is not revealed. The Genomics Library can include user location and user age, among other types of metadata about the user, and associate them with the user's genomic information. Instead of generating a line-by-line report with each of the individual user's genomic information
[0099] [0099] The Genomics Library can also be used to determine which genomic offerings or vendor services an individual user may be interested in. Since the Genomics Library includes transaction data, an application can compare a user's transaction data with a second user's transaction data. For example, User A is assumed to have navigated through Supplier 1's genomic offers through the graphical user interface produced by an application on User A's client machine and then subsequently viewed the user's genomic offers. Supplier 2 and purchased Service L from Supplier 2. If User B browsed through Supplier 1's genomic offers via the graphical user interface produced by the application on User B's client machine and subsequently closed the window showing Supplier's genomic offers 1, in the next logging of User B in the application, the application can push a notification to User B that indicates that User B may be interested in Service L of Supplier 2.
[00100] [00100] In some embodiments, a method for processing genomic information may include storing transaction data for a first user in a central repository, where first user transaction data is created as the first user completes a first transaction of user, where the first user transaction includes at least one of the following: viewing a supplier, viewing a supplier offer and purchasing a supplier offer; store second user transaction data in a central repository, where second user transaction data is created as the second user completes a second user transaction, where the first user transaction includes at least one of the following : view a supplier, view a supplier offer and buy a supplier offer; compare the first user transaction data with the second user transaction data; pushing a notification to the second user in a graphical user interface with a supplier offer based on the comparison.
[00101] [00101] The Genomics Library and the graphical user interface used to access the Genomics Library may, in some modalities, be part of a Genomics Environment. The Genomics Environment is a platform that allows third parties to publish applications that use the graphical user interface, as well as the information included in the Genomics Library. For example, Company A can host the Genomics Library and allow individual users to access the Genomics Library and the Genomics Environment through a graphical user interface. Company A can also publish an API kit, or an application programming interface kit for the Genomics Environment that allows Company B to publish an application that Company B created in the Genomics Environment. Company A may impose certain restrictions on Company B's application, such as security requirements, content requirements and privacy requirements, among others before allowing Company B's application to be published in the Genomics Environment. After being published in the Genomics Environment, individual users will be able to download, install or otherwise use the Company B application through the Genomics Environment and the graphical user interface. However, if the Company B application requires sensitive information or otherwise unshared genomic information from an individual user that is stored in the Genomics Library, the application may not work properly, or the genomic offerings may not be completely used. The individual user can decide to share their respective genomic information with the Company B application if the individual user decides to do so. If this is not the case, the individual user can delete the program or otherwise not use the Company B application. Ideally, before the download, installation or use by an individual user, the Company B application it must indicate what genomic information is necessary for the Company B application to be fully used.
[00102] [00102] As soon as an individual user joins the Genomics Environment, the individual user may not have genomic information about the individual user. In some modalities, a supplier participating in the Genomic Environment can offer a genomic offering that includes complete genome sequencing. The individual user can then use the supplier's genomic offer, such as asking a kit to return a DNA sample. In some modalities, the company that hosts the Genomic Environment can provide the genome sequencing service. In some modalities, the process of opening a new user account to join the Genomics Environment may include sending a DNA sample to the company that runs the Genomics Environment.
[00103] [00103] Other aspects and advantages of the disclosure will become evident from the present detailed description taken in conjunction with the accompanying drawings that illustrate, by way of example, the principles of the disclosure.

权利要求:
Claims (27)
[1]
1. Method for processing genomic information, characterized by the fact that the method comprises: dragging, by a user, a sequence icon that represents a user's sequence data to overlay a supplier icon that represents a supplier in a graphical user interface; using a predetermined percentage of the sequence icon that overlaps the supplier icon in the overlay, access a supplier-defined data set that comprises sequences used by analysis tools when present in the user's sequence data to access a defined data set per user of the sequence data associated with the sequence icon, where the user-defined data set defines accessible portions of the sequence data; comparing the supplier-defined data set with the user-defined data set by determining whether the accessible portions of the sequence data include the sequences of the supplier-defined data set; if the data set defined by the supplier is present in the data set defined by the user: display the supplier's genomic offers in the graphical user interface, where the genomic offers comprise the analysis tools that use the accessible portions the sequence data in the user-defined data set that are present in the supplier-defined data set.
[2]
2. Method, according to claim 1, characterized by the fact that the data set defined by the supplier comprises sequences associated with one or more genes.
[3]
3. Method, according to claim 1, characterized by the fact that the user-defined data set is determined based on a level of sharing of user-defined geometric information.
[4]
4. Method according to claim 1, characterized by the fact that the user-defined data set comprises only a portion of a genomic sequence so that certain portions of the genomic sequence are not accessible for use by the analyze.
[5]
5. Method, according to claim 1, characterized by the fact that the user-defined data set comprises anonymised genomic information so that the sequence data accessible to the analysis tools does not include user identification information.
[6]
6. Method, according to claim 1, characterized by the fact that the sequence icon represents a user's genome.
[7]
7. Method according to claim 6, characterized by the fact that the supplier icon comprises a supplier application icon, and in which the overlap with the supplier icon comprises overlapping of the sequence icon with the vendor application icon.
[8]
8. Method, according to claim 1, characterized by the fact that it comprises displaying the supplier-defined data set that is not present in the user-defined data set by displaying information related to one or more genes that must use a provider service and that are not present in the accessible portions of the sequence data.
[9]
9. Method, according to claim 8, characterized by the fact that it comprises displaying a signal to the user to make accessible the data set defined by supplier that is not present in the user defined data set to use a service supplier.
[10]
10. Method, according to claim 1, characterized by the fact that it comprises displaying a list of services available from other providers based on the user-defined data set.
[11]
11. Method, according to claim 1, characterized by the fact that it comprises displaying a signal for the user to obtain new information or additional genome information in the data set defined by the supplier.
[12]
12. System for processing genomic information, characterized by the fact that the system comprises a processor configured to: drag a sequence icon that represents a user's sequence data to overlay a supplier icon that represents a supplier on a graphical user interface; using a predetermined percentage of the sequence icon that overlaps the supplier icon in the overlay, access a supplier-defined data set that comprises sequences used by analysis tools when present in the user's sequence data to access a defined data set per user of the sequence data associated with the sequence icon, where the user-defined data set defines accessible portions of the sequence data; comparing the supplier-defined data set with the user-defined data set by determining whether the accessible portions of the sequence data include the sequences of the supplier-defined data set;
if the data set defined by the supplier is present in the data set defined by the user: display the supplier's genomic offers in the graphical user interface, where the genomic offers comprise the analysis tools that use the accessible portions the sequence data in the user-defined data set that are present in the supplier-defined data set and generate an analysis output; if the supplier-defined data set is not present in the user-defined data set: identify the strings of the supplier-defined data set that are not present in the user-defined data set; and display, in the graphical user interface, the supplier-defined data set that is not present in the user-defined data set.
[13]
13. System, according to claim 12, characterized by the fact that the processor is configured to receive a user input related to the genomic offers and to access the user-defined data set from a memory based on user input.
[14]
14. System, according to claim 12, characterized by the fact that the processor is configured to receive user input related to genomic offerings and provide instructions to a remote device to access the defined data set per user based on user input.
[15]
15. System according to claim 12, characterized by the fact that if the supplier-defined data set is not a subset of the user-defined data set, the processor is configured to provide instructions for displaying the icon supplier with a different graphical characteristic related to when the supplier-defined data set is a subset of the user-defined data set.
[16]
16. System according to claim 12, characterized by the fact that the user-defined data set comprises a defined subset of gene sequences in the sequence data, in which the sequence data comprises a genus user name.
[17]
17. System, according to claim 12, characterized by the fact that the user-defined data set comprises identification information or user phenotype.
[18]
18. Method for processing genomic information, characterized by the fact that the method comprises: storing transaction data of a first user in a central repository, in which the central repository stores sequence data of the first user, in which the data of first user transactions are created as a first user completes a first user transaction, where the first user transaction includes purchasing a supplier offer; store data from a second user transaction in a central repository, where the central repository stores sequence data from the second user in which data from the second user transaction is created as the second user completes a second user transaction, in that the second user transaction includes purchasing a supplier offer; compare the first user transaction data to the second user transaction data; determine that the first user's sequence data and the second user's sequence data have a common feature; and press a notification for the second user in a graphical user interface with a supplier offer based on the comparison of transaction data and a common feature presence.
[19]
19. Method, according to claim 18, characterized by the fact that the notification comprises information related to a purchase from a supplier offer of the first user transaction that was not present in the second user transaction data.
[20]
20. Method, according to claim 18, characterized by the fact that the first user transaction data and the second user transaction data overlap partially.
[21]
21. Method according to claim 18, characterized by the fact that first user transaction data or second user transaction data includes viewing a supplier or viewing a supplier offer.
[22]
22. Method, according to claim 1, characterized by the fact that the analysis tools operate on the accessible portions of the sequence data in the user-defined data set to generate an analysis output.
[23]
23. Method, according to claim 1, characterized by the fact that the analysis tools comprise a genealogy tool.
[24]
24. Method, according to claim 1, characterized by the fact that the analysis tools comprise a tool to identify a gene variant.
[25]
25. Method, according to claim 1, characterized by the fact that it comprises providing, by a user, an entry that selects one or more of the analysis tools.
[26]
26. Method according to claim 1, characterized in that the sequence data comprises nucleotide sequence data.
[27]
27. Method according to claim 1, characterized in that it comprises determining whether the accessible portions of the sequence data include the sequences of the supplier-defined data set comprises a sequence analysis of the sequence data of nucleotide for the presence of one or more nucleotide sequences.
Petition 870160049662, of September 6, 2016, p. 64/88 Consumer genome analysis tools
Consumer Hub installation Media Sequencing data sequencing social biological data 1/12
Search providers mechanisms
Secondary users
Information Permission profile information
Hub management module
Sequencing Link Information Data Authentication Communications
Sequencing device
Display Processor
NV memory
Executable instructions
Consumer Secondary users
Provide Receive data Perform sequencing sample biological analysis related to biological sample
Provide sequencing data Perform data analysis
Provide Receive instructions for access information and / or access and / or permission permission
Provide Receive Notify user notification secondary health and / or profile permissions information
Receive health information Request access and / or profile to sequencing data
Receive Request access request to data Receive access data sequencing sequencing or related information Authenticate request
Receive information Transmit data Receive sequencing data according to or related information access instructions
Notify consumer of access request
Receive request from secondary user to access a genome dataset associated with one or more resources
Compare stored genome data with request parameters
Determine which individual genomes allowed secondary user access
Generate a genome dataset that is compatible with the request and that allowed secondary user access
Allow secondary users to access only the genome data in the set
Receive search request from a user associated with the genome data
Access genome data and related analysis data
Provide search results based, at least in part, on genome data
Filtration Classification
Companies ancestry drug research
Media Products intended for consumers
Companies Providers of health care insurance

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同族专利:

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公开号 | 公开日

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AU2015217139A1|2016-09-29|

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KR20160122235A|2016-10-21|

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KR101982388B1|2019-05-27|

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WO2015123444A2|2015-08-20|

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JP2018110015A|2018-07-12|

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US10438244B2|2019-10-08|

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JP2017509093A|2017-03-30|

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AU2015217139B2|2018-04-12|

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US20190378173A1|2019-12-12|

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AU2018204202A1|2018-07-05|

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CN106462337A|2017-02-22|

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CN106462337B|2019-11-01|

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EP3105695A2|2016-12-21|

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JP6340438B2|2018-06-06|

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US20150227697A1|2015-08-13|

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CN110955371A|2020-04-03|

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AU2020202924A1|2020-05-21|

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WO2015123444A3|2015-10-08|

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CA2939642A1|2015-08-20|

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JP6701241B2|2020-05-27|

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法律状态:
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优先权:

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申请号 | 申请日 | 专利标题

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US201461939695P| true| 2014-02-13|2014-02-13|

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US61/939,695|2014-02-13|

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PCT/US2015/015674|WO2015123444A2|2014-02-13|2015-02-12|Integrated consumer genomic services|

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