Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.

ABSTRACT: Over the past decade, genome-wide association studies (GWASs) have found genetic variants associated with elevated risk for nonsyndromic orofacial cleft (NSOFC). In the post-GWAS era of NSOFC genetic research, an important aim is to identify the pathogenic variants that influence craniofacial development processes, towards understanding how they lead to disease manifestation. However, two major challenges hinder the translation of GWAS results into a mechanistic understanding. Firstly, it is uncertain whether the variants pinpointed by GWAS represent the underlying pathogenic variants; secondly, the bulk of genetic variants identified through GWAS are situated in noncoding regions of the genome, complicating their biological interpretation. Presently, research on noncoding genetic variants

SUBMITTER: Zhu S 

PROVIDER: S-EPMC12411058 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature