Systems and methods for high-accuracy variant calling
US11393557B2 · kind B2 · utility
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Key dates
| Filing date | Aug 25, 2016 |
| Grant date | Jul 19, 2022 |
| Priority date | — |
| Expiry date | Oct 16, 2037 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16C20/60
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Systems and methods for in silico prediction of HLA type of a patient are presented in which patient sequence reads and a reference sequence with known and distinct HLA alleles are used in a de Bruijn graph. A composite match score is then used to rank HLA alleles, thus providing a first HLA type. A second HLA type is identified by re-ranking using an adjusted composite match score.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.