Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample.

Journal: Genome biology
Published Date: Jan 7, 2022

Abstract

BACKGROUND: Accurate detection of somatic mutations is challenging but critical in understanding cancer formation, progression, and treatment. We recently proposed NeuSomatic, the first deep convolutional neural network-based somatic mutation detection approach, and demonstrated performance advantages on in silico data.

Authors

  • Sayed Mohammad Ebrahim Sahraeian
    Roche Sequencing Solutions, Belmont, CA, 94002, USA.
  • Li Tai Fang
    Bina Technologies, Roche Sequencing, Redwood City, 94065, CA, USA. li\_tai.fang@bina.roche.com.
  • Konstantinos Karagiannis
    The Center for Biologics Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA.
  • Malcolm Moos
    The Center for Biologics Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA.
  • Sean Smith
    The Center for Biologics Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA.
  • Luis Santana-Quintero
    The Center for Biologics Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA.
  • Chunlin Xiao
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
  • Michael Colgan
    Office of Oncological Diseases, Office of New Drug, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA.
  • Huixiao Hong
    National Center for Toxicological Research, U.S. Food and Drug Administration, 3900 NCTR Rd, Jefferson, AR, 72079, USA. Electronic address: Huixiao.Hong@fda.hhs.gov.
  • Marghoob Mohiyuddin
    Bina Technologies, Roche Sequencing, Redwood City, 94065, CA, USA. marghoob.mohiyuddin@bina.roche.com.
  • Wenming Xiao
    Office of Oncological Diseases, Office of New Drug, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA. wenming.xiao@fda.hhs.gov.

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