Article
Whole exome association of rare deletions in multiplex oral cleft families.
Genetic epidemiology - 1 Jan 2017
Fu Jack, Beaty Terri H, Scott Alan F, Hetmanski Jacqueline, Parker Margaret M, Wilson Joan E Bailey, Marazita Mary L, Mangold Elisabeth, Albacha-Hejazi Hasan, Murray Jeffrey C, Bureau Alexandre, Carey Jacob, Cristiano Stephen, Ruczinski Ingo, Scharpf Robert B
Abstract excerpt
By sequencing the exomes of distantly related individuals in multiplex families, rare mutational and structural changes to coding DNA can be characterized and their relationship to disease risk can be assessed. Recently, several rare single nucleotide variants (SNVs) were associated with an increased risk of nonsyndromic oral cleft, highlighting the importance of rare sequence variants in oral clefts and...
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