Invention Grant
- Patent Title: Haplotype phasing models
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Application No.: US16862266Application Date: 2020-04-29
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Publication No.: US12334191B2Publication Date: 2025-06-17
- Inventor: Catherine Ann Ball , Keith D. Noto , Kenneth G. Chahine , Mathew J. Barber , Yong Wang
- Applicant: Ancestry.com DNA, LLC
- Applicant Address: US UT Lehi
- Assignee: Ancestry.com DNA, LLC
- Current Assignee: Ancestry.com DNA, LLC
- Current Assignee Address: US UT Lehi
- Agency: Fenwick & West LLP
- Main IPC: G16B20/20
- IPC: G16B20/20 ; G06F17/18 ; G16B5/00 ; G16B5/20 ; G16B20/00 ; G16B40/00 ; G16B40/20 ; G16B40/30

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.
Public/Granted literature
- US20200303035A1 HAPLOTYPE PHASING MODELS Public/Granted day:2020-09-24
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