Size-based genomic analysis
US8620593B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Nov 5, 2010 |
| Grant date | Dec 31, 2013 |
| Priority date | — |
| Expiry date | Aug 7, 2031 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/172
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Systems, methods, and apparatuses for performing a prenatal diagnosis of a sequence imbalance are provided. A shift (e.g. to a smaller size distribution) can signify an imbalance in certain circumstances. For example, a size distribution of fragments of nucleic acids from an at-risk chromosome can be used to determine a fetal chromosomal aneuploidy. A size ranking of different chromosomes can be used to determine changes of a rank of an at-risk chromosome from an expected ranking. Also, a difference between a statistical size value for one chromosome can be compared to a statistical size value of another chromosome to identify a significant shift in size. A genotype and haplotype of the fetus may also be determined using a size distribution to determine whether a sequence imbalance occurs in a maternal sample relative to a genotypes or haplotype of the mother, thereby providing a genotype or haplotype of the fetus.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.