Population frequency modeling for quantitative variant pathogenicity estimation
US12191001B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Oct 31, 2023 |
| Grant date | Jan 7, 2025 |
| Priority date | — |
| Expiry date | Oct 31, 2043 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B40/20
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Embodiments of the disclosed technologies apply a logistic regression model to a set of population data for a set of genes. The set of population data includes a set of features for a variant located at a position within a gene. The set of features includes at least one population frequency meta-feature. The at least one population frequency meta-feature quantifies predictive value of allele frequency in the gene. Using the first set of population data, a variant classification prediction output by the logistic regression model is evaluated based on an expected variant classification. The logistic regression model is adjusted until at least one first performance criterion is satisfied to produce a trained logistic regression model. The trained logistic regression model is capable of outputting variant pathogenicity estimates that satisfy at least one second performance criterion.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.