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Standardized phenotyping enhances Mendelian disease gene identification

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Whole-exome sequencing has revolutionized the identification of genes with dominant disease-associated variants for rare clinically and genetically heterogeneous disorders, but the identification of genes with recessive disease-associated variants has been less successful. A new study now provides a framework integrating Mendelian variant filtering with statistical assessments of patients' genotypes and phenotypes, thereby catalyzing the discovery of novel mutations associated with recessive disease.

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Figure 1: Probabilistic genotype-phenotype matching.

Katie Vicari/Nature Publishing Group

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Authors and Affiliations

  1. Lisenka E.L.M. Vissers and Joris A. Veltman are in the Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.,

    Lisenka E L M Vissers & Joris A Veltman

  2. Joris A. Veltman is also in the Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.,

    Joris A Veltman

Authors
  1. Lisenka E L M Vissers
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  2. Joris A Veltman
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Correspondence to Lisenka E L M Vissers.

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The authors declare no competing financial interests.

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Vissers, L., Veltman, J. Standardized phenotyping enhances Mendelian disease gene identification. Nat Genet 47, 1222–1224 (2015). https://doi.org/10.1038/ng.3425

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