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Updated: Nov 22, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
Ratatosk: hybrid error correction of long reads enables accurate variant calling and assembly
Guillaume Holley1, Doruk Beyter2, Helga Ingimundardottir2
1deCODE genetics/Amgen Inc., Reykjavík, Iceland. guillaume.holley@decode.is.
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.
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