Article
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
PLoS genetics - 1 Nov 2017
Zhu Xiaolin, Padmanabhan Raghavendra, Copeland Brett, Bridgers Joshua, Ren Zhong, Kamalakaran Sitharthan, O'Driscoll-Collins Ailbhe, Berkovic Samuel F, Scheffer Ingrid E, Poduri Annapurna, Mei Davide, Guerrini Renzo, Lowenstein Daniel H, Allen Andrew S, Heinzen Erin L, Goldstein David B
Abstract excerpt
Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental disorders. Here, we evaluate how well a case-control collapsing analysis recovers genes causing dominant forms of EE originally implicated by DNM analysis. We performed a genome-wide search for an enrichment of "qualifying variants" in protein-coding genes...
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