Systems and methods for genetic analysis
US12386895B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Aug 21, 2020 |
| Grant date | Aug 12, 2025 |
| Priority date | — |
| Expiry date | May 11, 2044 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B20/00
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.