System and method for sequence identification in reassembly variant calling
US12046325B2 · kind B2 · utility
Assignee
Inventor
Key dates
| Filing date | Feb 14, 2019 |
| Grant date | Jul 23, 2024 |
| Priority date | — |
| Expiry date | Oct 9, 2041 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B30/20
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
In one embodiment, a method for identifying candidate sequences for genotyping a genomic sample comprises obtaining a plurality of sequence reads mapping to a genomic region of interest. The plurality of sequence reads are assembled into a directed acyclic graph (DAG) comprising a plurality of branch sites representing variation present in the set of sequence reads, each branch site comprising two or more branches. A path through the DAG comprises a set of successive branches over two or more branch sites and represents a possible candidate sequence of the genomic sample. One or more paths through the DAG are ranked by calculating scores for one or more branch sites, wherein the calculated score comprises a number of sequence reads that span multiple branch sites in a given path. At least one path is selected as a candidate sequence based at least in part on its rank.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.