Methods for partner agnostic gene fusion detection
US12139753B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Mar 20, 2020 |
| Grant date | Nov 12, 2024 |
| Priority date | — |
| Expiry date | May 28, 2043 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B30/00
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
A method for detecting a gene fusion includes amplifying a nucleic acid sample in the presence of primer pool to produce a plurality of amplicons. The primer pool includes primers targeting a plurality of exon-exon junctions of a driver gene. The amplicons correspond to the exon-exon junctions. The amplicons are sequenced and aligned to a reference sequence. The number of reads corresponding to each amplicon is normalized to give a normalized read count. A baseline correction is applied to the normalized read counts for the amplicons to form corrected read counts. A binary segmentation score is calculated for each corrected read count. A predicted breakpoint for the gene fusion is determined based on the amplicon index corresponding to the maximum absolute binary segmentation score. Gene fusion events may be detected in a partner agnostic manner, i.e. without prior knowledge of the specific fusion partner genes or specific breakpoint information.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.