Article

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios

2025-03-04

Abstract excerpt

De novo variants (DNs) are sporadically occurring variants that most commonly arise in the germline and are present in offspring but absent in both parents. As they are not under selective pressure, they may be enriched for disease-causing alleles and have been implicated in multiple rare genetic disorders. Cleft palate (CP) is a common craniofacial congenital anomaly occurring in ∼1 in 1700 live births. Genome-wi...

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Literature Corpus work: fb812518-0704-5982-8314-5e12844c3601
DOI: 10.1101/2025.03.03.25323233

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