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.

Jan 16, 2019 00:00 AM
Town and Country Hotel, Hampton and Sheffield Ballrooms
San Diego, CA, United States
William J. Rowell
Senior Scientist, Bioinformatics

My research interests include the detection and phasing of small variants in long read sequencing data.