Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

doi:10.1038/srep28663

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Article

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

Scientific reports - 1 Jul 2016

Uddin Mohammed, Pellecchia Giovanna, Thiruvahindrapuram Bhooma, D'Abate Lia, Merico Daniele, Chan Ada, Zarrei Mehdi, Tammimies Kristiina, Walker Susan, Gazzellone Matthew J, Nalpathamkalam Thomas, Yuen Ryan K C, Devriendt Koenraad, Mathonnet Géraldine, Lemyre Emmanuelle, Nizard Sonia, Shago Mary, Joseph-George Ann M, Noor Abdul, Carter Melissa T, Yoon Grace, Kannu Peter, Tihy Frédérique, Thorland Erik C, Marshall Christian R, Buchanan Janet A, Speevak Marsha, Stavropoulos Dimitri J, Scherer Stephen W

Abstract excerpt

A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage effects in neurodevelopmental disorders prompted us to develop a computational approach based on critical-exon (highly expressed in brain, highly conserved) examination for potential etiologic effects. Using a large CNV dataset, our...

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PMID: 27363808
DOI: 10.1038/srep28663
PMCID: PMC4929460

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