Copy number alteration and reference genome mapping
US11515003B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Jul 27, 2017 |
| Grant date | Nov 29, 2022 |
| Priority date | — |
| Expiry date | Feb 29, 2040 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B10/00
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genomic nucleic acid instability and genomic nucleic acid stability. The method comprises providing a set of genomic portions each coupled to a copy number alteration quantification for a test sample, wherein the genomic portions comprises portions of a reference genome to which sequence reads obtained for nucleic acid from a test sample obtained from the subject have been mapped, and the copy number alteration quantification coupled to each genomic portion has been determined from a quantification of sequence reads mapped to the genomic portion; and determining, by a computing device, presence or absence of genomic instability for the subject according to the copy number alteration quantifications coupled to the genomic portions.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.