Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.

ABSTRACT:

Introduction

The frequency and implications of secondary findings (SFs) from genomic testing data have been extensively researched. However, little is known about the frequency or reporting of SFs in Africans, who are underrepresented in large-scale population genomic studies. The availability of data from the first whole-genome sequencing for orofacial clefts in an African population motivated this investigation.

Methods

In total, 130 case-parent trios were analyzed for SFs within the ACMG SFv.3.0 list genes. Additionally, we filtered for four more genes (HBB, HSD32B, G6PD and ACADM).

Results

We identified 246 unique variants in 55 genes; five variants in four genes were classified as pathogenic or likely pathogenic (P/LP). The P/LP variants were seen in 2.3% (9/390)

SUBMITTER: Oladayo A 

PROVIDER: S-EPMC10568375 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature