Comprehensive FMR1 genotyping
US9371560B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Jul 19, 2013 |
| Grant date | Jun 21, 2016 |
| Priority date | — |
| Expiry date | Jul 25, 2033 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B20/20
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Disclosed herein are methods for the automated reconstruction of a genotype of a gene, fragment, or genomic region using exhaustive enumeration. The methods can be used to reconstruct the genotype of any GC-rich sequence, such as the CGG repeat region in the 5′ UTR of FMR1 or the CCG repeat region in the 5′ UTR of FMR2. Also disclosed is an apparatus for use in conducting automated genotype reconstruction, as well as methods of diagnosis and treatment using exhaustive enumeration methods to reconstruct and identify genotypes associated with a disease or disorder.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.