Detecting and classifying copy number variation
US9323888B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Aug 30, 2012 |
| Grant date | Apr 26, 2016 |
| Priority date | — |
| Expiry date | Nov 18, 2034 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/106
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.