Article
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
American journal of human genetics - 12 Aug 2011
Ozgül Rıza Köksal, Siemiatkowska Anna M, Yücel Didem, Myers Connie A, Collin Rob W J, Zonneveld Marijke N, Beryozkin Avigail, Banin Eyal, Hoyng Carel B, van den Born L Ingeborgh, Bose Ron, Shen Wei, Sharon Dror, Cremers Frans P M, Klevering B Jeroen, den Hollander Anneke I, Corbo Joseph C
Abstract excerpt
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the context of a genetically heterogeneous disease, retinitis pigmentosa (RP), we devised a candidate-gene prioritization strategy called cis-regulatory mapping that utilizes ChIP-seq data for the photoreceptor transcription factor CRX to rank candidate genes....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.