Deep learning-based variant classifier
US12217832B2 · kind B2 · utility
Assignees
Inventors
Key dates
| Filing date | May 9, 2023 |
| Grant date | Feb 4, 2025 |
| Priority date | — |
| Expiry date | May 9, 2043 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B40/00
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
The technology disclosed directly operates on sequencing data and derives its own feature filters. It processes a plurality of aligned reads that span a target base position. It combines elegant encoding of the reads with a lightweight analysis to produce good recall and precision using lightweight hardware. For instance, one million training examples of target base variant sites with 50 to 100 reads each can be trained on a single GPU card in less than 10 hours with good recall and precision. A single GPU card is desirable because it a computer with a single GPU is inexpensive, almost universally within reach for users looking at genetic data. It is readily available on could-based platforms.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.