Article
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.
Human mutation - 1 May 2017
Vulto-van Silfhout Anneke T, Gilissen Christian, Goeman Jelle J, Jansen Sandra, van Amen-Hellebrekers Claudia J M, van Bon Bregje W M, Koolen David A, Sistermans Erik A, Brunner Han G, de Brouwer Arjan P M, de Vries Bert B A
Abstract excerpt
Next-generation sequencing led to the identification of many potential novel disease genes. The presence of mutations in the same gene in multiple unrelated patients is, however, a priori insufficient to establish that these genes are truly involved in the respective disease. Here, we show how phenotype information can be incorporated within statistical approaches to provide additional evidence for the causality...
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