Literature DB >> 35669050

Protocol for unbiased, consolidated variant calling from whole exome sequencing data.

Kleio-Maria Verrou1, Georgios A Pavlopoulos1,2, Panagiotis Moulos1,2.   

Abstract

Whole Exome Sequencing (WES) is used for querying DNA variants using the protein coding parts of genomes (exomes). However, WES analysis can be challenging because of the complexity of the data. Here, we describe a consolidated protocol for unbiased WES analysis. The protocol uses three variant callers (HaplotypeCaller, FreeBayes, and DeepVariant), which have different underlying models. We provide detailed execution steps, as well as basic variant filtering, annotation, visualization, and consolidation aspects.
© 2022 The Authors.

Entities:  

Keywords:  Bioinformatics; Genetics; Genomics

Mesh:

Year:  2022        PMID: 35669050      PMCID: PMC9163752          DOI: 10.1016/j.xpro.2022.101418

Source DB:  PubMed          Journal:  STAR Protoc        ISSN: 2666-1667


  16 in total

Review 1.  Toward better understanding of artifacts in variant calling from high-coverage samples.

Authors:  Heng Li
Journal:  Bioinformatics       Date:  2014-06-27       Impact factor: 6.937

2.  BEDTools: a flexible suite of utilities for comparing genomic features.

Authors:  Aaron R Quinlan; Ira M Hall
Journal:  Bioinformatics       Date:  2010-01-28       Impact factor: 6.937

3.  Integrative genomics viewer.

Authors:  James T Robinson; Helga Thorvaldsdóttir; Wendy Winckler; Mitchell Guttman; Eric S Lander; Gad Getz; Jill P Mesirov
Journal:  Nat Biotechnol       Date:  2011-01       Impact factor: 54.908

4.  A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Authors:  Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
Journal:  Nat Genet       Date:  2011-04-10       Impact factor: 38.330

5.  MultiQC: summarize analysis results for multiple tools and samples in a single report.

Authors:  Philip Ewels; Måns Magnusson; Sverker Lundin; Max Käller
Journal:  Bioinformatics       Date:  2016-06-16       Impact factor: 6.937

6.  Twelve years of SAMtools and BCFtools.

Authors:  Petr Danecek; James K Bonfield; Jennifer Liddle; John Marshall; Valeriu Ohan; Martin O Pollard; Andrew Whitwham; Thomas Keane; Shane A McCarthy; Robert M Davies; Heng Li
Journal:  Gigascience       Date:  2021-02-16       Impact factor: 6.524

7.  HTSlib: C library for reading/writing high-throughput sequencing data.

Authors:  James K Bonfield; John Marshall; Petr Danecek; Heng Li; Valeriu Ohan; Andrew Whitwham; Thomas Keane; Robert M Davies
Journal:  Gigascience       Date:  2021-02-16       Impact factor: 6.524

8.  Fast and accurate short read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2009-05-18       Impact factor: 6.937

9.  The UCSC genome browser and associated tools.

Authors:  Robert M Kuhn; David Haussler; W James Kent
Journal:  Brief Bioinform       Date:  2012-08-20       Impact factor: 11.622

10.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504

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