The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Aug. 12, 2025

Filed:

Aug. 21, 2020
Applicant:

Laboratory Corporation of America Holdings, Burlington, NC (US);

Inventors:

Alexander Frieden, Somerville, MA (US);

Caleb J. Kennedy, Arlington, MA (US);

Xavier S. Haurie, Belmont, MA (US);

Assignee:
Attorney:
Primary Examiner:
Assistant Examiner:
Int. Cl.
CPC ...
G06F 16/901 (2019.01); G06F 16/9038 (2019.01); G16B 20/00 (2019.01); G16B 20/20 (2019.01); G16B 20/40 (2019.01); G16B 50/00 (2019.01); G16B 50/30 (2019.01);
U.S. Cl.
CPC ...
G06F 16/9024 (2019.01); G06F 16/9038 (2019.01); G16B 20/20 (2019.02); G16B 20/40 (2019.02); G16B 50/00 (2019.02); G16B 50/30 (2019.02); G16B 20/00 (2019.02);
Abstract

The invention relates to using a graph database in genetic analyses to link mutation data to extrinsic data. Entities such as mutations, patients, samples, alleles, and clinical information are individually represented and stored as nodes and relationships between entities are also individually represented and stored. Each node and relationship can be stored using a fixed-size record and nodes can be flexibly invoked to represent any entity without disrupting the existing data. Systems and methods of the invention may be used for obtaining data representing a mutation in an individual and using a node in a graph database to store a description of the mutation. The node has stored within it a pointer to an adjacent node that provides information about a clinical significance of the variant. The graph database can be queried to provide a report of the clinical significance of the mutation.


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