Comprehensive Variant Detection with Highly Accurate Long Reads


Recent improvements in library preparation and sequencing chemistry have increased the length, accuracy, and throughput of PacBio Circular Consensus Sequencing (CCS) reads, resulting in 10-20kb reads with average read quality well above 99%. Here we demonstrate the utility of these highly accurate long reads in detecting both small variants and structural variants with high recall and precision in the human reference sample HG002/NA24385, and describe how the improved mappability of long CCS reads allows us to detect variants in medically relevant genes that have previously proven difficult-to-map.

Apr 22, 2019 00:00 AM
2019 PacBio User Group Meeting China
DoubleTree by Hilton Hotel Beijing
Beijing, China
William J. Rowell
Senior Scientist, Bioinformatics

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