Cargando…
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...
Autores principales: | , , , , , |
---|---|
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 |
_version_ | 1783647084902088704 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7861424 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT herzeelcharlotte multithreadedvariantcallinginelprep5 AT costanzapascal multithreadedvariantcallinginelprep5 AT decapdries multithreadedvariantcallinginelprep5 AT fostierjan multithreadedvariantcallinginelprep5 AT wuytsroel multithreadedvariantcallinginelprep5 AT verachtertwilfried multithreadedvariantcallinginelprep5 |