GENOMIC SERVICES PLATFORM SUPPORTING MULTIPLE APPLICATION PROVIDERS
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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