Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.

doi:10.1534/genetics.114.165225

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Article

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.

Genetics - 1 Jul 2014

Bureau Alexandre, Parker Margaret M, Ruczinski Ingo, Taub Margaret A, Marazita Mary L, Murray Jeffrey C, Mangold Elisabeth, Noethen Markus M, Ludwig Kirsten U, Hetmanski Jacqueline B, Bailey-Wilson Joan E, Cropp Cheryl D, Li Qing, Szymczak Silke, Albacha-Hejazi Hasan, Alqosayer Khalid, Field L Leigh, Wu-Chou Yah-Huei, Doheny Kimberly F, Ling Hua, Scott Alan F, Beaty Terri H

Abstract excerpt

A dozen genes/regions have been confirmed as genetic risk factors for oral clefts in human association and linkage studies, and animal models argue even more genes may be involved. Genomic sequencing studies should identify specific causal variants and may reveal additional genes as influencing risk to oral clefts, which have a complex and heterogeneous etiology. We conducted a whole exome sequencing (WES) study...

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PMID: 24793288
DOI: 10.1534/genetics.114.165225
PMCID: PMC4096358

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CDH1

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