Articles with "annotation novo" as a keyword



Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate

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Published in 2025 at "Birth Defects Research"

DOI: 10.1101/2025.02.21.25322690

Abstract: Orofacial clefts (OFCs) are the most common craniofacial birth defects, affecting 1 in 700 births, and have a strong genetic basis with a high recurrence risk within families. read more here.

Keywords: functional annotation; novo variants; annotation novo; variants found ... See more keywords