Unknown

Dataset Information

0

Ratatosk: hybrid error correction of long reads enables accurate variant calling and assembly.


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.

SUBMITTER: Holley G 

PROVIDER: S-EPMC7792008 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

altmetric image

Publications

Ratatosk: hybrid error correction of long reads enables accurate variant calling and assembly.

Holley Guillaume G   Beyter Doruk D   Ingimundardottir Helga H   Møller Peter L PL   Kristmundsdottir Snædis S   Eggertsson Hannes P HP   Halldorsson Bjarni V BV  

Genome biology 20210108 1


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 yiel  ...[more]

Similar Datasets

| S-EPMC7782737 | biostudies-literature
| S-EPMC6362602 | biostudies-literature
| S-EPMC3707490 | biostudies-literature
| S-EPMC6028576 | biostudies-literature
| S-EPMC6265270 | biostudies-literature
| S-EPMC5221426 | biostudies-literature
| S-EPMC5066169 | biostudies-literature
| S-EPMC6788989 | biostudies-literature
| S-EPMC6923905 | biostudies-literature