Method and system for phasing individual genomes in the context of clinical interpretation
US9928338B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Jun 1, 2012 |
| Grant date | Mar 27, 2018 |
| Priority date | — |
| Expiry date | Aug 8, 2034 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16H20/10
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
The present disclosure presents a unified system to phase a personal genome for downstream clinical interpretation. In an embodiment, an initial phasing is generated using public datasets, such as haplotypes from the 1000 Genomes Project, and a phasing toolkit. A local perturbation algorithm is applied to improve long range phasing. If available, a Mendelian inheritance pipeline is applied to identify phasing of novel and rare variants. These datasets are merged, followed by correction by any experimental data. This allows for full clinical interpretation of the role of a group of variants in a gene, whether inherited or de novo variants.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.