Methods for non-invasive assessment of genetic alterations
US11929145B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Jan 22, 2018 |
| Grant date | Mar 12, 2024 |
| Priority date | — |
| Expiry date | Apr 4, 2041 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B20/40
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genetic alterations. In particular, a method is provided for that includes obtaining a set of sequence reads. The sequence reads each include a single molecule barcode (SMB) sequence that is a non-random oligonucleotide sequence. The method further includes assigning the sequence reads to read groups according to a read group signature. The read group signature comprises an SMB sequence and a start and end position of a nucleic acid fragment from the circulating cell free sample nucleic acid. The sequence reads comprising start and end positions and an SMB sequence similar to the read group signature are assigned to a read group. The method further includes generating a consensus for each read group, and determining the presence or absence of a genetic alteration based on the consensus for each read group.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.