发明申请
- 专利标题: Phased Whole Genome Genetic Risk In A Family Quartet
- 专利标题(中): 家族四重奏的基因全基因组遗传风险
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申请号: US13445923申请日: 2012-04-13
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公开(公告)号: US20130073217A1公开(公告)日: 2013-03-21
- 发明人: Frederick Dewey , Euan Ashley
- 申请人: Frederick Dewey , Euan Ashley
- 申请人地址: US CA Palo Alto
- 专利权人: The Board of Trustees of the Leland Stanford Junior University
- 当前专利权人: The Board of Trustees of the Leland Stanford Junior University
- 当前专利权人地址: US CA Palo Alto
- 主分类号: G06F19/24
- IPC分类号: G06F19/24 ; G06F19/18
摘要:
In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.
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