发明名称 HAPLOTYPE PHASING MODELS
摘要 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.
申请公布号 WO2016061568(A1) 申请公布日期 2016.04.21
申请号 WO2015US56164 申请日期 2015.10.19
申请人 ANCESTRY.COM DNA, LLC 发明人 BALL, CATHERINE, ANN;NOTO, KEITH, D.;CHAHINE, KENNETH, G.;BARBER, MATHEW, J.;WANG, YONG
分类号 G06F19/22;G06F19/20 主分类号 G06F19/22
代理机构 代理人
主权项
地址