Haplotype phasing models
US12334191B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Apr 29, 2020 |
| Grant date | Jun 17, 2025 |
| Priority date | — |
| Expiry date | Aug 4, 2043 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B40/30
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Novel haplotype cluster Markov models are used to phase genomic samples. After the models are built, they rapidly and accurately phase new samples without requiring that the new samples be used to re-build the models. The models set transition probabilities such that the probability for an appearance of any allele within any haplotype is a non-zero number. Furthermore, the most unlikely pairs of haplotypes are discarded from each model at each level until ε of the likelihood mass at each level is discarded. The models are also constructed such that contributing windows of SNPs partially overlap so that phasing decisions near one of the extreme ends of any model is are not significantly determinative of the phase. Additionally, the models are configured such that two or more nodes can be merged during the building/updating procedure to consolidate haplotype clusters having similar distributions.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.