Standardized phenotyping enhances Mendelian disease gene identification

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Title:	Standardized phenotyping enhances Mendelian disease gene identification
Author(s):	Vissers, L.E.L.M. ; Veltman, J.A.
Publication year:	2015
Source:	Nature Genetics, vol. 47, iss. 11, (2015), pp. 1222-1224
ISSN:	1061-4036
DOI:	https://doi.org/10.1038/ng.3425
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/152741
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Subject:	Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Organization:	Human Genetics
Journal title:	Nature Genetics
Volume:	vol. 47
Issue:	iss. 11
Page start:	p. 1222
Page end:	p. 1224
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.