Literature DB >> 33539352

Multithreaded variant calling in elPrep 5.

Charlotte Herzeel1, Pascal Costanza1, Dries Decap1,2, Jan Fostier1,2, Roel Wuyts1, Wilfried Verachtert1.   

Abstract

We present elPrep 5, which updates the elPrep framework for processing sequencing alignment/map files with variant calling. elPrep 5 can now execute the full pipeline described by the GATK Best Practices for variant calling, which consists of PCR and optical duplicate marking, sorting by coordinate order, base quality score recalibration, and variant calling using the haplotype caller algorithm. elPrep 5 produces identical BAM and VCF output as GATK4 while significantly reducing the runtime by parallelizing and merging the execution of the pipeline steps. Our benchmarks show that elPrep 5 speeds up the runtime of the variant calling pipeline by a factor 8-16x on both whole-exome and whole-genome data while using the same hardware resources as GATK4. This makes elPrep 5 a suitable drop-in replacement for GATK4 when faster execution times are needed.

Entities:  

Year:  2021        PMID: 33539352      PMCID: PMC7861424          DOI: 10.1371/journal.pone.0244471

Source DB:  PubMed          Journal:  PLoS One        ISSN: 1932-6203            Impact factor:   3.240


  13 in total

1.  From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.

Authors:  Geraldine A Van der Auwera; Mauricio O Carneiro; Christopher Hartl; Ryan Poplin; Guillermo Del Angel; Ami Levy-Moonshine; Tadeusz Jordan; Khalid Shakir; David Roazen; Joel Thibault; Eric Banks; Kiran V Garimella; David Altshuler; Stacey Gabriel; Mark A DePristo
Journal:  Curr Protoc Bioinformatics       Date:  2013

2.  The Sequence Alignment/Map format and SAMtools.

Authors:  Heng Li; Bob Handsaker; Alec Wysoker; Tim Fennell; Jue Ruan; Nils Homer; Gabor Marth; Goncalo Abecasis; Richard Durbin
Journal:  Bioinformatics       Date:  2009-06-08       Impact factor: 6.937

3.  Phase 2 study of afatinib among patients with recurrent and/or metastatic esophageal squamous cell carcinoma.

Authors:  Min Hee Hong; Seong Gu Heo; Yun-Gyoo Lee; Hyo Song Kim; Keon Uk Park; Hoon-Gu Kim; Yoon Ho Ko; Ik-Joo Chung; Young Joo Min; Min Kyoung Kim; Kyu Ryung Kim; Jinseon Yoo; Tae-Min Kim; Hye Ryun Kim; Byoung Chul Cho
Journal:  Cancer       Date:  2020-08-04       Impact factor: 6.860

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.  Halvade: scalable sequence analysis with MapReduce.

Authors:  Dries Decap; Joke Reumers; Charlotte Herzeel; Pascal Costanza; Jan Fostier
Journal:  Bioinformatics       Date:  2015-03-26       Impact factor: 6.937

6.  Halvade-RNA: Parallel variant calling from transcriptomic data using MapReduce.

Authors:  Dries Decap; Joke Reumers; Charlotte Herzeel; Pascal Costanza; Jan Fostier
Journal:  PLoS One       Date:  2017-03-30       Impact factor: 3.240

7.  elPrep 4: A multithreaded framework for sequence analysis.

Authors:  Charlotte Herzeel; Pascal Costanza; Dries Decap; Jan Fostier; Wilfried Verachtert
Journal:  PLoS One       Date:  2019-02-13       Impact factor: 3.240

8.  A comparison of three programming languages for a full-fledged next-generation sequencing tool.

Authors:  Pascal Costanza; Charlotte Herzeel; Wilfried Verachtert
Journal:  BMC Bioinformatics       Date:  2019-06-03       Impact factor: 3.169

9.  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

10.  Impact of post-alignment processing in variant discovery from whole exome data.

Authors:  Shulan Tian; Huihuang Yan; Michael Kalmbach; Susan L Slager
Journal:  BMC Bioinformatics       Date:  2016-10-03       Impact factor: 3.169

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  2 in total

1.  Halvade somatic: Somatic variant calling with Apache Spark.

Authors:  Dries Decap; Louise de Schaetzen van Brienen; Maarten Larmuseau; Pascal Costanza; Charlotte Herzeel; Roel Wuyts; Kathleen Marchal; Jan Fostier
Journal:  Gigascience       Date:  2022-01-12       Impact factor: 6.524

Review 2.  From molecules to genomic variations: Accelerating genome analysis via intelligent algorithms and architectures.

Authors:  Mohammed Alser; Joel Lindegger; Can Firtina; Nour Almadhoun; Haiyu Mao; Gagandeep Singh; Juan Gomez-Luna; Onur Mutlu
Journal:  Comput Struct Biotechnol J       Date:  2022-08-18       Impact factor: 6.155

  2 in total

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