Systems and methods for determining structural variation and phasing using variant call data
US10854315B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Feb 9, 2016 |
| Grant date | Dec 1, 2020 |
| Priority date | — |
| Expiry date | Aug 17, 2039 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q1/6869
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Systems and methods for determining structural variation and phasing using variant call data obtained from nucleic acid of a biological sample are provided. Sequence reads are obtained, each comprising a portion corresponding to a subset of the test nucleic acid and a portion encoding a barcode independent of the sequencing data. Bin information is obtained. Each bin represents a different portion of the sample nucleic acid. Each bin corresponds to a set of sequence reads in a plurality of sets of sequence reads formed from the sequence reads such that each sequence read in a respective set of sequence reads corresponds to a subset of the nucleic acid represented by the bin corresponding to the respective set. Binomial tests identify bin pairs having more sequence reads with the same barcode in common than expected by chance. Probabilistic models determine structural variation likelihood from the sequence reads of these bin pairs.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.