- 专利标题: Systems and methods for adaptive local alignment for graph genomes
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申请号: US16663243申请日: 2019-10-24
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公开(公告)号: US11810648B2公开(公告)日: 2023-11-07
- 发明人: Kaushik Ghose , Wan-Ping Lee
- 申请人: Seven Bridges Genomics Inc.
- 申请人地址: US MA Charlestown
- 专利权人: Seven Bridges Genomics Inc.
- 当前专利权人: Seven Bridges Genomics Inc.
- 当前专利权人地址: US MA Charlestown
- 代理机构: Wolf, Greenfield & Sacks, P.C.
- 主分类号: G01N33/48
- IPC分类号: G01N33/48 ; G01N33/50 ; G16B30/10 ; G16B30/00
摘要:
Systems and methods for analyzing genomic information can include obtaining a sequence read including genetic information; identifying, within a graph representing a reference genome, a plurality of candidate mapping positions that relate to the genetic information, the graph comprising nodes representing genetic sequences and edges connecting pairs of nodes; determining, by means of a computer system, whether an alignment with the graph surrounding each of the plurality of candidate mapping positions is advanced or basic; and performing for each candidate mapping position, by means of the computer system, a local alignment based on whether the local alignment is advanced or basic. The advanced local alignment can include a first-local-alignment algorithm, and the basic local alignment includes a second-local-alignment algorithm. Based on the local alignments, the mapped position of the sequence read can be identified within the genome.
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