- 专利标题: GENOMIC SERVICES PLATFORM SUPPORTING MULTIPLE APPLICATION PROVIDERS
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申请号: US15872793申请日: 2018-01-16
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公开(公告)号: US20190026156A1公开(公告)日: 2019-01-24
- 发明人: James Lu , Jim Chou , William Lee , Chris Williams , James Warren , Ruomu Jiang
- 申请人: James Lu , Jim Chou , William Lee , Chris Williams , James Warren , Ruomu Jiang
- 主分类号: G06F9/50
- IPC分类号: G06F9/50 ; G06F19/28 ; G06F19/18 ; G06F8/30 ; G06F8/34 ; G06F9/48
摘要:
Systems, platforms, methods and media for providing genomic services are disclosed. In one example, a genomic services platform comprises a network interface through which genomic sequence reads derived from a biological sample are received. The platform also includes a bioinformatics processing pipeline that comprises a read alignment module configured to generate observed sequence data by aligning the sequence reads relative to a reference sequence, a variant calling module operative to identify observed variants in the observed sequence data, and a variant refinement module for producing a set of refined variants associated with the biological sample. A variant imputation module produces a set of imputed variants associated with the user and a variant storage module, operating on a server-less framework, is disposed to receive a query from network infrastructure of a partner application provider and to provide selected ones of the refined or imputed variants m response to the query.