Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.

ABSTRACT: Rare coding variants are a current focus in studies of complex disease. Previously, at least 68 rare coding variants were reported from candidate gene sequencing studies in non-syndromic cleft lip and palate (NSCL/P), a common birth defect. Advances in sequencing technology have now resulted in thousands of sequenced exomes, providing a large resource for comparative genetic studies. We collated rare coding variants reported to contribute to NSCL/P and compared them to variants identified from control exome databases to determine if some might be rare but benign variants. Seventy-one percentage of the variants described as etiologic for NSCL/P were not present in the exome data, suggesting that many likely contribute to disease. Our results strongly support a role for rare variants previou

SUBMITTER: Leslie EJ 

PROVIDER: S-EPMC3788862 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature