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Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples

Accurate detection of somatic mutations in DNA sequencing data is a fundamental prerequisite for cancer research. Previous analytical challenge was overcome by consensus mutation calling from four to five popular callers. This, however, increases the already nontrivial computing time from individual...

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Autores principales: Ji, Shuangxi, Zhu, Tong, Sethia, Ankit, Wang, Wenyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350007/
https://www.ncbi.nlm.nih.gov/pubmed/37461467
http://dx.doi.org/10.1101/2023.07.04.547569
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author Ji, Shuangxi
Zhu, Tong
Sethia, Ankit
Wang, Wenyi
author_facet Ji, Shuangxi
Zhu, Tong
Sethia, Ankit
Wang, Wenyi
author_sort Ji, Shuangxi
collection PubMed
description Accurate detection of somatic mutations in DNA sequencing data is a fundamental prerequisite for cancer research. Previous analytical challenge was overcome by consensus mutation calling from four to five popular callers. This, however, increases the already nontrivial computing time from individual callers. Here, we launch MuSE2.0, powered by multi-step parallelization and efficient memory allocation, to resolve the computing time bottleneck. MuSE2.0 speeds up 50 times than MuSE1.0 and 8–80 times than other popular callers. Our benchmark study suggests combining MuSE2.0 and the recently expedited Strelka2 can achieve high efficiency and accuracy in analyzing large cancer genomic datasets.
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spelling pubmed-103500072023-07-17 Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples Ji, Shuangxi Zhu, Tong Sethia, Ankit Wang, Wenyi bioRxiv Article Accurate detection of somatic mutations in DNA sequencing data is a fundamental prerequisite for cancer research. Previous analytical challenge was overcome by consensus mutation calling from four to five popular callers. This, however, increases the already nontrivial computing time from individual callers. Here, we launch MuSE2.0, powered by multi-step parallelization and efficient memory allocation, to resolve the computing time bottleneck. MuSE2.0 speeds up 50 times than MuSE1.0 and 8–80 times than other popular callers. Our benchmark study suggests combining MuSE2.0 and the recently expedited Strelka2 can achieve high efficiency and accuracy in analyzing large cancer genomic datasets. Cold Spring Harbor Laboratory 2023-07-04 /pmc/articles/PMC10350007/ /pubmed/37461467 http://dx.doi.org/10.1101/2023.07.04.547569 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which allows reusers to copy and distribute the material in any medium or format in unadapted form only, for noncommercial purposes only, and only so long as attribution is given to the creator.
spellingShingle Article
Ji, Shuangxi
Zhu, Tong
Sethia, Ankit
Wang, Wenyi
Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples
title Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples
title_full Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples
title_fullStr Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples
title_full_unstemmed Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples
title_short Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples
title_sort accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350007/
https://www.ncbi.nlm.nih.gov/pubmed/37461467
http://dx.doi.org/10.1101/2023.07.04.547569
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