학술논문

Ratatosk: hybrid error correction of long reads enables accurate variant calling and assembly
Document Type
article
Source
Genome Biology, Vol 22, Iss 1, Pp 1-22 (2021)
Subject
Biology (General)
QH301-705.5
Genetics
QH426-470
Language
English
ISSN
1474-760X
Abstract
Abstract A major challenge to long read sequencing data is their high error rate of up to 15%. We present Ratatosk, a method to correct long reads with short read data. We demonstrate on 5 human genome trios that Ratatosk reduces the error rate of long reads 6-fold on average with a median error rate as low as 0.22 %. SNP calls in Ratatosk corrected reads are nearly 99 % accurate and indel calls accuracy is increased by up to 37 %. An assembly of Ratatosk corrected reads from an Ashkenazi individual yields a contig N50 of 45 Mbp and less misassemblies than a PacBio HiFi reads assembly.