{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,7]],"date-time":"2025-05-07T17:26:36Z","timestamp":1746638796887},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T00:00:00Z","timestamp":1349827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,11]]},"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\u2010syndromic cleft lip and palate (NSCL<\/jats:styled-content>\/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<\/jats:styled-content>\/P and compared them to variants identified from control exome databases to determine if some might be rare but benign variants. Seventy\u2010one percentage of the variants described as etiologic for NSCL<\/jats:styled-content>\/P were not present in the exome data, suggesting that many likely contribute to disease. Our results strongly support a role for rare variants previously reported in the majority of NSCL<\/jats:styled-content>\/P candidate genes but diminish support for variants in others. However, because clefting is a complex trait it is not possible to be definitive about the role of any particular variant for its risk for NSCL<\/jats:styled-content>\/P.<\/jats:p>","DOI":"10.1111\/cge.12018","type":"journal-article","created":{"date-parts":[[2012,9,15]],"date-time":"2012-09-15T05:27:43Z","timestamp":1347686863000},"page":"496-500","source":"Crossref","is-referenced-by-count":31,"title":["Evaluating rare coding variants as contributing causes to non\u2010syndromic cleft lip and palate"],"prefix":"10.1111","volume":"84","author":[{"given":"EJ","family":"Leslie","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Iowa Iowa City IA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JC","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Iowa City IA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,10,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/456018a"},{"key":"e_1_2_6_3_1","unstructured":"Exome Variant Server.2011. 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