发明授权
US08880456B2 Analyzing genome sequencing information to determine likelihood of co-segregating alleles on haplotypes
有权
分析基因组测序信息,以确定单倍型上共分离等位基因的可能性
- 专利标题: Analyzing genome sequencing information to determine likelihood of co-segregating alleles on haplotypes
- 专利标题(中): 分析基因组测序信息,以确定单倍型上共分离等位基因的可能性
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申请号: US13591741申请日: 2012-08-22
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公开(公告)号: US08880456B2公开(公告)日: 2014-11-04
- 发明人: Bahram Ghaffarzadeh Kermani , Radoje Drmanac
- 申请人: Bahram Ghaffarzadeh Kermani , Radoje Drmanac
- 申请人地址: US CA Mountain View
- 专利权人: Complete Genomics, Inc.
- 当前专利权人: Complete Genomics, Inc.
- 当前专利权人地址: US CA Mountain View
- 代理机构: Kilpatrick Townsend & Stockton LLP
- 代理商 David B. Raczkowski
- 主分类号: G06F9/44
- IPC分类号: G06F9/44 ; G06N7/02 ; G06N7/08 ; G06F19/18 ; G06F19/22
摘要:
Sequencing information is used to correlate alleles at certain locations to alleles at other locations. The statistical information from the reads of fragments in a sample can be used to determine the phasing of haplotypes and to correct or confirm based calls at the locations. In one example, a confidence value (strength score) is determined for a particular hypothesis, which can include whether two alleles are on a same haplotype at two particular loci, as well as what the alleles are on another haplotype (e.g. for a diploid organism). The strength can include a positive contribution from data that is consistent with the hypothesis and a negative contribution from data is that inconsistent with the hypothesis, where both values can be used in a formula to determine the strength.
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