When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.

Journal: Bioinformatics (Oxford, England)
PMID: 28882004

Abstract

MOTIVATION: Loss-of-function genetic variants are frequently associated with severe clinical phenotypes, yet many are present in the genomes of healthy individuals. The available methods to assess the impact of these variants rely primarily upon evolutionary conservation with little to no consideration of the structural and functional implications for the protein. They further do not provide information to the user regarding specific molecular alterations potentially causative of disease.

Authors

  • Kymberleigh A Pagel
    Department of Computer Science and Informatics, Indiana University, Bloomington, IN, USA.
  • Vikas Pejaver
    Department of Biomedical Informatics and Medical Education and the eScience Institute, University of Washington, Seattle, Washington 98109, USA; email: vpejaver@uw.edu.
  • Guan Ning Lin
    Department of Psychiatry, University of California San Diego, La Jolla, CA, USA.
  • Hyun-Jun Nam
    Department of Psychiatry, University of California San Diego, La Jolla, CA, USA.
  • Matthew Mort
    Institute of Medical Genetics, Cardiff University, Cardiff, UK.
  • David N Cooper
    Institute of Medical Genetics, Cardiff University, Cardiff, UK.
  • Jonathan Sebat
    Department of Psychiatry, University of California San Diego, La Jolla, CA, USA.
  • Lilia M Iakoucheva
    Department of Psychiatry, University of California San Diego, La Jolla, CA, USA.
  • Sean D Mooney
    Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.
  • Predrag Radivojac
    School of Informatics and Computing, Indiana University, Bloomington, IN, USA.

Keywords

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