Ancestral-specific reference genomes and uses thereof
US9449143B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Mar 15, 2013 |
| Grant date | Sep 20, 2016 |
| Priority date | — |
| Expiry date | Dec 23, 2034 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B20/40
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Ancestry has a significant impact on the major and minor alleles found in each nucleotide position within the genome. Due to mechanisms of inheritance, ancestral-specific information contained within the genome is conserved within members of an ancestry. For this reason, individuals within a specific ancestry are more likely to share alleles in their genomes with other members of the same ancestry. Functionally, the combination of alleles at all positions within a group of individuals defines that group as having a common ancestry. Moreover, the aggregation of differences between alleles at all positions distinguishes one ancestry from another. The genomic similarities and differences between ancestries provides a mechanism to generate reference genomes that are specific for each ancestry. Reference genomes that are specific to an ancestry can be used to increase the accuracy of whole genome sequencing, DNA-based diagnostics and therapeutic marker discovery and in a variety of real-world DNA-based applications.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.