Literature DB >> 33419473

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

Guillaume Holley1, Doruk Beyter2, Helga Ingimundardottir2, Peter L Møller3, Snædis Kristmundsdottir2,4, Hannes P Eggertsson2, Bjarni V Halldorsson2,4.   

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.

Entities:  

Year:  2021        PMID: 33419473      PMCID: PMC7792008          DOI: 10.1186/s13059-020-02244-4

Source DB:  PubMed          Journal:  Genome Biol        ISSN: 1474-7596            Impact factor:   13.583


  45 in total

1.  Hybrid correction of highly noisy long reads using a variable-order de Bruijn graph.

Authors:  Pierre Morisse; Thierry Lecroq; Arnaud Lefebvre
Journal:  Bioinformatics       Date:  2018-12-15       Impact factor: 6.937

2.  QUAST: quality assessment tool for genome assemblies.

Authors:  Alexey Gurevich; Vladislav Saveliev; Nikolay Vyahhi; Glenn Tesler
Journal:  Bioinformatics       Date:  2013-02-19       Impact factor: 6.937

3.  Best practices for benchmarking germline small-variant calls in human genomes.

Authors:  Peter Krusche; Len Trigg; Paul C Boutros; Christopher E Mason; Francisco M De La Vega; Benjamin L Moore; Mar Gonzalez-Porta; Michael A Eberle; Zivana Tezak; Samir Lababidi; Rebecca Truty; George Asimenos; Birgit Funke; Mark Fleharty; Brad A Chapman; Marc Salit; Justin M Zook
Journal:  Nat Biotechnol       Date:  2019-03-11       Impact factor: 54.908

Review 4.  Long-read human genome sequencing and its applications.

Authors:  Glennis A Logsdon; Mitchell R Vollger; Evan E Eichler
Journal:  Nat Rev Genet       Date:  2020-06-05       Impact factor: 53.242

5.  yacrd and fpa: upstream tools for long-read genome assembly.

Authors:  Pierre Marijon; Rayan Chikhi; Jean-Stéphane Varré
Journal:  Bioinformatics       Date:  2020-06-01       Impact factor: 6.937

6.  A haplotype-aware de novo assembly of related individuals using pedigree sequence graph.

Authors:  Shilpa Garg; John Aach; Heng Li; Isaac Sebenius; Richard Durbin; George Church
Journal:  Bioinformatics       Date:  2020-04-15       Impact factor: 6.937

7.  Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes.

Authors:  Kishwar Shafin; Trevor Pesout; Ryan Lorig-Roach; Marina Haukness; Hugh E Olsen; Colleen Bosworth; Joel Armstrong; Kristof Tigyi; Nicholas Maurer; Sergey Koren; Fritz J Sedlazeck; Tobias Marschall; Simon Mayes; Vania Costa; Justin M Zook; Kelvin J Liu; Duncan Kilburn; Melanie Sorensen; Katy M Munson; Mitchell R Vollger; Jean Monlong; Erik Garrison; Evan E Eichler; Sofie Salama; David Haussler; Richard E Green; Mark Akeson; Adam Phillippy; Karen H Miga; Paolo Carnevali; Miten Jain; Benedict Paten
Journal:  Nat Biotechnol       Date:  2020-05-04       Impact factor: 54.908

8.  Whole genome characterization of sequence diversity of 15,220 Icelanders.

Authors:  Hákon Jónsson; Patrick Sulem; Birte Kehr; Snaedis Kristmundsdottir; Florian Zink; Eirikur Hjartarson; Marteinn T Hardarson; Kristjan E Hjorleifsson; Hannes P Eggertsson; Sigurjon Axel Gudjonsson; Lucas D Ward; Gudny A Arnadottir; Einar A Helgason; Hannes Helgason; Arnaldur Gylfason; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Thorunn Rafnar; Soren Besenbacher; Michael L Frigge; Simon N Stacey; Olafur Th Magnusson; Unnur Thorsteinsdottir; Gisli Masson; Augustine Kong; Bjarni V Halldorsson; Agnar Helgason; Daniel F Gudbjartsson; Kari Stefansson
Journal:  Sci Data       Date:  2017-09-21       Impact factor: 6.444

9.  popSTR2 enables clinical and population-scale genotyping of microsatellites.

Authors:  Snædis Kristmundsdottir; Hannes P Eggertsson; Gudny A Arnadottir; Bjarni V Halldorsson
Journal:  Bioinformatics       Date:  2020-04-01       Impact factor: 6.937

10.  LoRDEC: accurate and efficient long read error correction.

Authors:  Leena Salmela; Eric Rivals
Journal:  Bioinformatics       Date:  2014-08-26       Impact factor: 6.937

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  8 in total

Review 1.  Nanopore sequencing technology, bioinformatics and applications.

Authors:  Yunhao Wang; Yue Zhao; Audrey Bollas; Yuru Wang; Kin Fai Au
Journal:  Nat Biotechnol       Date:  2021-11-08       Impact factor: 54.908

Review 2.  Genome sequence assembly algorithms and misassembly identification methods.

Authors:  Yue Meng; Yu Lei; Jianlong Gao; Yuxuan Liu; Enze Ma; Yunhong Ding; Yixin Bian; Hongquan Zu; Yucui Dong; Xiao Zhu
Journal:  Mol Biol Rep       Date:  2022-09-23       Impact factor: 2.742

3.  The clove (Syzygium aromaticum) genome provides insights into the eugenol biosynthesis pathway.

Authors:  Sonia Ouadi; Nicolas Sierro; Simon Goepfert; Lucien Bovet; Gaetan Glauser; Armelle Vallat; Manuel C Peitsch; Felix Kessler; Nikolai V Ivanov
Journal:  Commun Biol       Date:  2022-07-09

4.  Structural variant-based pangenome construction has low sensitivity to variability of haplotype-resolved bovine assemblies.

Authors:  Alexander S Leonard; Danang Crysnanto; Zih-Hua Fang; Michael P Heaton; Brian L Vander Ley; Carolina Herrera; Heinrich Bollwein; Derek M Bickhart; Kristen L Kuhn; Timothy P L Smith; Benjamin D Rosen; Hubert Pausch
Journal:  Nat Commun       Date:  2022-05-31       Impact factor: 17.694

5.  Telomere length de novo assembly of all 7 chromosomes and mitogenome sequencing of the model entomopathogenic fungus, Metarhizium brunneum, by means of a novel assembly pipeline.

Authors:  Zack Saud; Alexandra M Kortsinoglou; Vassili N Kouvelis; Tariq M Butt
Journal:  BMC Genomics       Date:  2021-01-28       Impact factor: 3.969

6.  Genomic Analysis of a Strain Collection Containing Multidrug-, Extensively Drug-, Pandrug-, and Carbapenem-Resistant Modern Clinical Isolates of Acinetobacter baumannii.

Authors:  Adam Valcek; Kristina Nesporova; Clémence Whiteway; Tim De Pooter; Wouter De Coster; Mojca Strazisar; Charles Van der Henst
Journal:  Antimicrob Agents Chemother       Date:  2022-08-15       Impact factor: 5.938

Review 7.  Towards population-scale long-read sequencing.

Authors:  Wouter De Coster; Matthias H Weissensteiner; Fritz J Sedlazeck
Journal:  Nat Rev Genet       Date:  2021-05-28       Impact factor: 53.242

8.  Scarless excision of an insertion sequence restores capsule production and virulence in Acinetobacter baumannii.

Authors:  Clémence Whiteway; Adam Valcek; Chantal Philippe; Mojca Strazisar; Tim De Pooter; Ivan Mateus; Anke Breine; Charles Van der Henst
Journal:  ISME J       Date:  2021-12-23       Impact factor: 11.217

  8 in total

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