- 专利标题: GENOMIC SERVICES PLATFORM SUPPORTING MULTIPLE APPLICATION PROVIDERS
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申请号: US15872756申请日: 2018-01-16
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公开(公告)号: US20190206512A1公开(公告)日: 2019-07-04
- 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: G16B30/10
- IPC分类号: G16B30/10 ; C12Q1/686 ; G16B50/00 ; G16B40/00
摘要:
Systems, platforms, methods and media for providing genomic services axe disclosed. In one example, a system for providing genomic services comprises genomic sequencing equipment configured to generate sequence reads based upon a biological sample obtained from a user, store the sequence reads in a FASTQ storage file, and communicate the FASTQ file electronically to a recipient. The system also includes a genomic services platform which includes a network interface through which the sequence reads are received, and a bioinformatics processing pipeline. The bioinformatics processing pipeline includes a read alignment module configured to generate observed sequence data, and a variant calling module is operative to identify observed variants in the observed sequence data. A variant storage module is disposed to receive a query from network infrastructure of a partner application provider and to provide selected ones of refined variants in response to a query.
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