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Multithreaded variant calling in elPrep 5

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...

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Autores principales: Herzeel, Charlotte, Costanza, Pascal, Decap, Dries, Fostier, Jan, Wuyts, Roel, Verachtert, Wilfried
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7861424/
https://www.ncbi.nlm.nih.gov/pubmed/33539352
http://dx.doi.org/10.1371/journal.pone.0244471
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author Herzeel, Charlotte
Costanza, Pascal
Decap, Dries
Fostier, Jan
Wuyts, Roel
Verachtert, Wilfried
author_facet Herzeel, Charlotte
Costanza, Pascal
Decap, Dries
Fostier, Jan
Wuyts, Roel
Verachtert, Wilfried
author_sort Herzeel, Charlotte
collection PubMed
description 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.
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spelling pubmed-78614242021-02-12 Multithreaded variant calling in elPrep 5 Herzeel, Charlotte Costanza, Pascal Decap, Dries Fostier, Jan Wuyts, Roel Verachtert, Wilfried PLoS One Research Article 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. Public Library of Science 2021-02-04 /pmc/articles/PMC7861424/ /pubmed/33539352 http://dx.doi.org/10.1371/journal.pone.0244471 Text en © 2021 Herzeel et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Herzeel, Charlotte
Costanza, Pascal
Decap, Dries
Fostier, Jan
Wuyts, Roel
Verachtert, Wilfried
Multithreaded variant calling in elPrep 5
title Multithreaded variant calling in elPrep 5
title_full Multithreaded variant calling in elPrep 5
title_fullStr Multithreaded variant calling in elPrep 5
title_full_unstemmed Multithreaded variant calling in elPrep 5
title_short Multithreaded variant calling in elPrep 5
title_sort multithreaded variant calling in elprep 5
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7861424/
https://www.ncbi.nlm.nih.gov/pubmed/33539352
http://dx.doi.org/10.1371/journal.pone.0244471
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