Helix Opco, LLC

Microsoft Technology Licensing, LLC

Jim Chou

William Lee

James L Warren

Chris Williams

Ruomu Jiang

James Lu

Robert L Chambers

Julian James Odell

Karen Kaushansky

Larry Coryell

James Warrens

Systems, platforms, methods and media for providing genomic services are disclosed. In one example, a genomic services platform comprises a network interface through which are received genomic sequence reads derived from a biological sample obtained from a user The platform also includes a bioinformatics processing pipeline including 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 user. A variant imputation module produces a set of imputed variants associated with the user, and a variant storage module disposed to receive a query from network infrastructure of a partner application provider and to provide selected ones of the refined or imputed variants in response to the query.

Genomic services platform supporting multiple application providers

Systems, platforms, methods and media for providing genomic services are disclosed. In one example, a genomic services platform comprises a network interface through which are received genomic sequence reads derived from a biological sample obtained from a user. The platform also includes a bioinformatics processing pipeline including 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 genotype data including a set of refined variants associated with the user. A variant imputation module produces a set of imputed variants associated with the user, and is configured to receive, as input, at least some of the genotype data and separate the genotype data into high-quality and low-quality genotypes based on a genotype quality.

Genomic services system with dual-phase genotype imputation

Architecture that employs a combination of in-band signaling (e.g., DTMF) with speech recognition to deliver usability improvements. The in-band signaling allows the user to indicate to the system when a barge-in operation is occurring and/or when to start listening to subsequent speech input and optionally, when to stop listening for further speech input. The in-band signaling can be utilized during a telephone call and using wireline and wireless telephones. Moreover, the architecture can be incorporated at the platform level requiring little, if any, application changes to support the new mode of operation.

In-band signaling in interactive communications

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San Francisco, CA, United States of America

Jim Chou