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METHODS AND SYSTEMS FOR DETECTING SEQUENCE VARIANTS 发明申请

2023-10-26 4280 2375K 0

专利信息

申请日期 2025-07-16 申请号 US14041850
公开(公告)号 US20150056613A1 公开(公告)日 2015-02-26
公开国别 US 申请人省市代码 全国
申请人 SEVEN BRIDGES GENOMICS INC
简介 The invention provides methods for identifying rare variants near a structural variation in a genetic sequence, for example, in a nucleic acid sample taken from a subject. The invention additionally includes methods for aligning reads (e.g., nucleic acid reads) to a reference sequence construct accounting for the structural variation, methods for building a reference sequence construct accounting for the structural variation or the structural variation and the rare variant, and systems that use the alignment methods to identify rare variants. The method is scalable, and can be used to align millions of reads to a construct thousands of bases long, or longer.


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