Genome-wide copy number variations in a large cohort of bantu African children.

ABSTRACT:

Background

Copy number variations (CNVs) account for a substantial proportion of inter-individual genomic variation. However, a majority of genomic variation studies have focused on single-nucleotide variations (SNVs), with limited genome-wide analysis of CNVs in large cohorts, especially in populations that are under-represented in genetic studies including people of African descent.

Methods

We carried out a genome-wide copy number analysis in > 3400 healthy Bantu Africans from Tanzania. Signal intensity data from high density (> 2.5 million probes) genotyping arrays were used for CNV calling with three algorithms including PennCNV, DNAcopy and VanillaICE. Stringent quality metrics and filtering criteria were applied to obtain high confidence CNVs.

Results

We identif

SUBMITTER: Yilmaz F 

PROVIDER: S-EPMC8130444 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature