- 专利标题: SYSTEMS AND METHODS FOR DETECTING STRUCTURAL VARIANTS
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申请号: US15921812申请日: 2018-03-15
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公开(公告)号: US20180276335A1公开(公告)日: 2018-09-27
- 发明人: Rajesh Gottimukkala , Fiona Hyland , Sowmi Utiramerur , Jeoffrey Schageman , Susan Magdaleno
- 申请人: LIFE TECHNOLOGIES CORPORATION
- 主分类号: G06F19/18
- IPC分类号: G06F19/18 ; C12Q1/6858 ; C12Q1/6869
摘要:
Systems and method for identifying long deletions can obtain sequencing information for a plurality of amplicons in and around a potential region from a nucleic acid sample. The sequencing information can include a plurality of reads that can be mapped to a reference sequence. Using information, such as where reads map to a reference sequence and relative abundance of reads for the amplicons, structural variants can be identified and a determination can be made if the nucleic acid sample is homozygous or heterozygous for the structural variant.
公开/授权文献
- US10984887B2 Systems and methods for detecting structural variants 公开/授权日:2021-04-20
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