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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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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DOI: https://doi.org/10.1038/ng.3425
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