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

  1. Ankit Sethia2
  1. 1 The University of Texas MD Anderson Cancer Center;
  2. 2 NVIDIA Corporation
  • * Corresponding author; email: wwang7{at}mdanderson.org
  • Abstract

    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 MuSE 2, powered by multi-step parallelization and efficient memory allocation, to resolve the computing time bottleneck. MuSE 2 speeds up 50 times than MuSE 1 and 8-80 times than other popular callers. Our benchmark study suggests combining MuSE 2 and the recently accelerated Strelka2 achieves high efficiency and accuracy in analyzing large cancer genomic datasets.

    • Received August 29, 2023.
    • Accepted April 3, 2024.

    This manuscript is Open Access.

    This article, published in Genome Research, is available under a Creative Commons License (Attribution 4.0 International license), as described at http://creativecommons.org/licenses/by/4.0/.

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    1. Genome Res. gr.278456.123 Published by Cold Spring Harbor Laboratory Press

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