Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans.

ABSTRACT: Similarity in facial characteristics between relatives suggests a strong genetic component underlies facial variation. While there have been numerous studies of the genetics of facial abnormalities and, more recently, single nucleotide polymorphism (SNP) genome-wide association studies (GWASs) of normal facial variation, little is known about the role of genetic structural variation in determining facial shape. In a sample of Bantu African children, we found that only 9% of common copy number variants (CNVs) and 10-kb CNV analysis windows are well tagged by SNPs (r² ≥ 0.8), indicating that associations with our internally called CNVs were not captured by previous SNP-based GWASs. Here, we present a GWAS and gene set analysis of the relationship between normal facial variation an

SUBMITTER: Null M 

PROVIDER: S-EPMC8756499 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature