학술논문

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
Document Type
Report
Source
Nature Biotechnology. October 2019, Vol. 37 Issue 10, p1155, 8 p.
Subject
United States
Language
English
ISSN
1087-0156
Abstract
The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing (CCS) to improve the accuracy of single-molecule real-time (SMRT) sequencing (PacBio) and generate highly accurate (99.8%) long high-fidelity (HiFi) reads with an average length of 13.5 kilobases (kb). We applied our approach to sequence the well-characterized human HG002/NA24385 genome and obtained precision and recall rates of at least 99.91% for single-nucleotide variants (SNVs), 95.98% for insertions and deletions 15 megabases (Mb) and concordance of 99.997%, substantially outperforming assembly with less-accurate long reads. High-fidelity reads improve variant detection and genome assembly on the PacBio platform.
Author(s): Aaron M. Wenger [sup.1] , Paul Peluso [sup.1] , William J. Rowell [sup.1] , Pi-Chuan Chang [sup.2] , Richard J. Hall [sup.1] , Gregory T. Concepcion [sup.1] , Jana [...]