ISOWN: accurate somatic mutation identification in the absence of normal tissue controls.

Journal: Genome medicine
Published Date: Jun 29, 2017

Abstract

BACKGROUND: A key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor. However, there are a variety of common scenarios in which matched normal tissue is not available for comparison.

Authors

  • Irina Kalatskaya
    Informatics and Bio-computing, Ontario Institute for Cancer Research, Toronto, Ontario, Canada. ikalats@gmail.com.
  • Quang M Trinh
    Informatics and Bio-computing, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
  • Melanie Spears
    Transformative Pathology, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
  • John D McPherson
    Department of Biochemistry and Molecular Medicine, University of California Davis, Sacramento, California, USA.
  • John M S Bartlett
    Transformative Pathology, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
  • Lincoln Stein
    Informatics and Bio-computing, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.

Keywords

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