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Nat Genet. 2015 Nov;47(11):1222-4. doi: 10.1038/ng.3425.

Standardized phenotyping enhances Mendelian disease gene identification.

Author information

1
Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
2
Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.

Abstract

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.

PMID:
26506899
DOI:
10.1038/ng.3425
[Indexed for MEDLINE]

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