Alignment free filtering for identifying fusions
US11473137B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Jun 12, 2018 |
| Grant date | Oct 18, 2022 |
| Priority date | — |
| Expiry date | Oct 17, 2040 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/16
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Cell free nucleic acids from a test sample obtained from an individual are analyzed to identify possible fusion events. Cell free nucleic acids are sequenced and processed to generate fragments. Fragments are decomposed into kmers and the kmers are either analyzed de novo or compared to targeted nucleic acid sequences that are known to be associated with fusion gene pairs of interest. Thus, kmers that may have originated from a fusion event can be identified. These kmers are consolidated to generate gene ranges from various genes that match sequences in the fragment. A candidate fusion event can be called given the spanning of one or more gene ranges across the fragment.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.