SYSTEMS, METHODS, AND MEDIA FOR DE NOVO ASSEMBLY OF WHOLE GENOME SEQUENCE DATA

    公开(公告)号:US20170235876A1

    公开(公告)日:2017-08-17

    申请号:US15242256

    申请日:2016-08-19

    CPC classification number: G16B30/00

    Abstract: Described are computer-implemented methods, systems, and media for de novo phased diploid assembly of nucleic acid sequence data generated from a nucleic acid sample of an individual utilizing nucleic acid tags to preserve long-range sequence context for the individual such that a subset of short-read sequence data derived from a common starting sequence shares a common tag. The phased diploid assembly is achieved without alignment to a reference sequence derived from organisms other than the individual. The methods, systems, and media described are computer-resource efficient, allowing scale-up.

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