Method and system for sequence alignment and variant calling
US10854317B2 · kind B2 · utility
Inventors
Key dates
| Filing date | Dec 28, 2018 |
| Grant date | Dec 1, 2020 |
| Priority date | — |
| Expiry date | Dec 28, 2038 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B20/20
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
A method to align a next generation sequencing read to a reference sequence includes: (a) receiving a sequencing read; (b) performing a first alignment of the sequencing read to a reference sequence so as to identify a target sequence within the reference sequence whereto the sequencing read maps; (c) selecting a first and a second anchor sequence; (d) attaching the first anchor sequence to the upstream region of the sequencing read and the second anchor sequence to the downstream region of the sequencing read so as to generate an extended sequencing read; (e) attaching the first anchor sequence to the upstream region of the target sequence and the second anchor sequence to the downstream region of the target sequence, so as to generate an extended target sequence; (f) performing a second alignment of the extended sequencing read to the extended target sequence, so that the second alignment is more correctly mapped to the target sequence than the first alignment; (g) identifying a position where one or more bases between the extended sequencing read and the extended target sequence are different based on the second alignment result; and (h) calling a variant based on the identifica…
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.