Detecting and Phasing Small Variants with Highly Accurate Long Reads

Detecting and Phasing Small Variants with Highly Accurate Long Reads

We summarize the challenges around small variant detection for highly accurate (>=99%) long reads and present workflow solutions using existing tools (GATK) and new tools (DeepVariant with trained CCS model). Presented at PacBio SMRT Informatics Workshop in San Diego.

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William Rowell

January 16, 2019
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