Improving the rigor of mutation reports: Biologic parentage and de novo mutations


  • Leslie Biesecker

    Corresponding author
    1. National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    • National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Room 4A56, Bethesda, MD 20892-4472.
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  • Communicated by Garry R. Cutting


The accurate determination and dissemination of the causality or pathogenicity of human DNA sequence variants is a crucial function of genetics journals. Published reports of pathogenic mutations are a common source of information for mutation databases, which are in turn used to make recommendations to patients. One of the strongest pieces of evidence in support of causality or pathogenicity for mutation reports is the occurrence of a de novo mutation. Yet, many publications describing such changes do not demonstrate that the mutation is truly de novo, by performing biologic parentage testing. I argue here that all mutation reports that describe such mutations should include biologic parentage testing, or in the absence of such testing, the mutation should be described as “apparently de novo.” This proposed standard should improve the transparency of the evidence that underlies our literature, and ultimately improve the databases of mutations in human disease. Hum Mutat 33:1501–1502, 2012. Published 2012 Wiley Periodicals, Inc.*