Comprehensive Variant Detection with Highly Accurate Long Reads

Abstract

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.

Date
Apr 30, 2019 00:00 AM
Event
2019 PacBio User Group Meeting Korea
Location
The K Hotel
Seoul, South Korea
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William J. Rowell
Senior Scientist, Bioinformatics

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