PLATEFORME DE SERVICES GÉNOMIQUES PRENANT EN CHARGE DE MULTIPLES FOURNISSEURS D'APPLICATION

摘要

Methods, systems and media for providing genomic services are disclosed. In one example, a system comprises genomic sequencing equipment configured to generate sequence reads based upon a biological sample obtained from a user, and a genomic services platform. The platform includes a network interface through which the sequence reads are received. A bioinformatics processing pipeline includes a read alignment module configured to generate observed sequence data by aligning the sequence reads relative to a reference sequence, and a variant calling module is operative to identify observed variants in the observed sequence data. Genomic data storage contains the 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 genomic information based on or derived from the observed variants in response to the query.