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The VAAST Variant Prioritizer (VVP): Ultrafast, easy to use whole genome variant prioritization tool

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Prioritization of sequence variants for diagnosis and discovery of Mendelian diseases is challenging, especially in large collections of whole genome sequences (WGS). Fast, scalable solutions are needed for discovery research, for clinical applications, and for curation of massive public variant repositories such as dbSNP and gnomAD.

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Nội dung Text: The VAAST Variant Prioritizer (VVP): Ultrafast, easy to use whole genome variant prioritization tool

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