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公开(公告)号：US20150046191A1
公开(公告)日：2015-02-12
申请号：US14463073
申请日：2014-08-19
Applicant: FOUNDATION MEDICINE, INC.
Inventor： Helena Futscher de Deus , Rachel Lauren Erlich , Ronald David Collette , Alexander N. Parker , Michael Pellini , Gary Palmer , Mary Pat Lancelotta , Matthew J. Hawryluk , Philip James Stephens , Eric Karl Neumann , Jeffrey B. Collemer
IPC: G06F19/00
CPC classification number: G16H10/60 , G06F19/3456 , G06Q50/24 , G16C99/00 , G16H15/00
Abstract: Various embodiments provide interfaces to access genomic testing information and incorporate it into daily physician practice. According to one aspect, a graph-based data model is used that may be used to organizes and revise precision medicine knowledge. In one example structure, gene states are abstracted into alteration groups, where alteration groups are built using reverse engineering actionable information and storing that information within the graph-based data structure. Volumes of genomic alterations and associated information (e.g., journal articles, clinical trial information, therapies, etc.) are analyzed and synthesized into actionable information items viewable on an alteration system in a graph-based data format. According to one embodiment, the system can be configured to focus practitioners on discrete portions of the alteration information on which they can act. According to other aspects, curated information is provided on the system to enable practitioners to make informed decisions regarding the implications of the presence of specific genomic alterations.
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公开(公告)号：US20150046180A1
公开(公告)日：2015-02-12
申请号：US14463068
申请日：2014-08-19
Applicant: FOUNDATION MEDICINE, INC.
Inventor： Helena Futscher de Deus , Rachel Lauren Erlich , Ronald David Collette , Alexander N. Parker , Michael Pellini , Gary Palmer , Mary Pat Lancelotta , Matthew J. Hawryluk , Philip James Stephens , Eric Karl Neumann
IPC: G06F19/00
Abstract: Various embodiments provide interfaces to access genomic testing information and incorporate it into daily physician practice. According to one aspect, a graph-based data model is used that may be used to organizes and revise precision medicine knowledge. In one example structure, gene states are abstracted into alteration groups, where alteration groups are built using reverse engineering actionable information and storing that information within the graph-based data structure. Volumes of genomic alterations and associated information (e.g., journal articles, clinical trial information, therapies, etc.) are analyzed and synthesized into actionable information items viewable on an alteration system in a graph-based data format. According to one embodiment, the system can be configured to focus practitioners on discrete portions of the alteration information on which they can act. According to other aspects, curated information is provided on the system to enable practitioners to make informed decisions regarding the implications of the presence of specific genomic alterations.
Abstract translation: 各种实施方案提供了接口以访问基因组测试信息并将其并入日常医师实践中。 根据一个方面，使用可用于组织和修改精密医学知识的基于图的数据模型。 在一个示例结构中，基因状态被抽象为变更组，其中使用反向工程可操作信息构建变更组，并将该信息存储在基于图的数据结构内。 将基因组变化和相关信息（例如，期刊文章，临床试验信息，治疗等）的卷分析并合成为以基于图表的数据格式在变更系统上可见的可操作的信息项。 根据一个实施例，系统可以被配置为将从业者聚焦在它们可以作用于其上的变更信息的离散部分上。 根据其他方面，在系统上提供了策划的信息，以使从业者就具体基因组改变的存在的含义做出明智的决定。
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公开(公告)号：US11158425B2
公开(公告)日：2021-10-26
申请号：US14463068
申请日：2014-08-19
Applicant: FOUNDATION MEDICINE, INC.
Inventor： Helena Futscher de Deus , Rachel Lauren Erbach , Ronald David Collette , Alexander N. Parker , Michael Pellini , Gary Palmer , Mary Pat Lancelotta , Matthew J. Hawryluk , Philip James Stephens , Eric Karl Neumann
Abstract: Various embodiments provide interfaces to access genomic testing information and incorporate it into daily physician practice. According to one aspect, a graph-based data model is used that may be used to organizes and revise precision medicine knowledge. In one example structure, gene states are abstracted into alteration groups, where alteration groups are built using reverse engineering actionable information and storing that information within the graph-based data structure. Volumes of genomic alterations and associated information (e.g., journal articles, clinical trial information, therapies, etc.) are analyzed and synthesized into actionable information items viewable on an alteration system in a graph-based data format. According to one embodiment, the system can be configured to focus practitioners on discrete portions of the alteration information on which they can act. According to other aspects, curated information is provided on the system to enable practitioners to make informed decisions regarding the implications of the presence of specific genomic alterations.
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公开(公告)号：US20200020430A1
公开(公告)日：2020-01-16
申请号：US16579500
申请日：2019-09-23
Applicant: FOUNDATION MEDICINE, INC.
Inventor： Helena Futscher de Deus , Rachel Lauren Erlich , Ronald David Collette , Alexander Nevin Parker , Michael Pellini , Gary Palmer , Mary Patricia Lancelotta , Matthew J. Hawryluk , Philip James Stephens , Eric Karl Neumann
IPC: G16H10/60
Abstract: A system for managing genomic information includes a processor to collect and store biomarker data, receive and store patient-specific pathology information, generate a graph-based data structure of complex data elements arranged into a walkable graph representation that includes at least one of a disease alteration group association (DAGA) element representing a relationship between a disease and an alteration group (AG), at least one of a disease therapy association (DTA) element representing a relationship between a disease and a therapy for treating the disease, and a therapy genomic effect (TGE) element representing a relationship between a gene and a known effect of a therapy on the gene. The processor follows links in the walkable graph representation to determine at least one inferred path, generates inferential matches to actionable items based on an accumulated trust score of the at least one inferred path, and determines a treatment decision for a cancer patient.
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