Article

Consensus-based Detection of Aetiologic Copy Number Variants For Syndromic Orofacial Clefts Utilising Whole Exome Sequencing of Case Parent Trios

2026-04-01

Abstract excerpt

<title>Abstract</title> <p> Background Orofacial clefts (OFCs) are the most common craniofacial congenital anomalies, with complex aetiology involving both genetic and environmental factors. Most genetic studies on the condition have focused on the contribution of single nucleotide variants (SNVs) and small insertions and deletions (indels). However, the contribution of copy number variants (CNVs), especially i...

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Literature Corpus work: 5c97e328-75fe-557f-95c5-1bc3da8ee45c
DOI: 10.21203/rs.3.rs-9225341/v1

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