Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease.

Journal: Heart rhythm
PMID: 34958940

Abstract

BACKGROUND: Variation in lamin A/C results in a spectrum of clinical disease, including arrhythmias and cardiomyopathy. Benign variation is rare, and classification of LMNA missense variants via in silico prediction tools results in a high rate of variants of uncertain significance (VUSs).

Authors

  • Jeffrey S Bennett
    Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, Ohio State University, Columbus, Ohio.
  • David M Gordon
    Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio.
  • Uddalak Majumdar
    Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, Ohio.
  • Patrick J Lawrence
    Department of Biomedical Informatics, The Ohio State University, Columbus, OH 43210, USA.
  • Adrianna Matos-Nieves
    Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, Ohio.
  • Katherine Myers
    Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, Ohio.
  • Anna N Kamp
    Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, Ohio State University, Columbus, Ohio.
  • Julie C Leonard
    Department of Pediatrics, Ohio State University, Columbus, Ohio; Center for Injury Research and Policy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio.
  • Kim L McBride
    Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, Ohio State University, Columbus, Ohio.
  • Peter White
    Department of Pediatrics, Ohio State University, Columbus, Ohio; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio.
  • Vidu Garg
    Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, Ohio State University, Columbus, Ohio; Department of Molecular Genetics, Ohio State University, Columbus, Ohio. Electronic address: vidu.garg@nationwidechildrens.org.

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