Pathogenicity scoring system for human clinical genetics
US10762981B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Oct 22, 2014 |
| Grant date | Sep 1, 2020 |
| Priority date | — |
| Expiry date | Jul 29, 2037 |
Classification
- Technology area (CPC Y)Emerging Cross-Sectional Technologies
- CPC primaryY02A90/10
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Provided are methods and systems for determining the clinical significance of a genetic variant. The methods entail determining, for the variant, (a) a function score based on known impact of the variant on a biological function of a cell or protein, (b) a frequency score based on the frequency of the variant in a population, (c) a co-occurrence score based on how the variant co-occurs with a reference variant having known clinical significance relating to a clinical disease or condition, and (d) a family segregation score based on how the variant segregates with a disease or condition in a family; and aggregating, on a computer, the function score, the frequency score, the co-occurrence score, the family segregation score to generate a clinical significance score indicating the clinical significance of the genetic variant.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.