Burden of Mendelian disorders in a large Middle Eastern biobank.

ABSTRACT:

Background

Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies.

Methods

Here, we interrogate 6045 whole genomes from Qatar-a Middle Eastern population with high consanguinity and understudied mutational burden-enrolled at the national Biobank and phenotyped for 58 clinically-relevant quantitative traits. We examine a curated set of 2648 Mendelian genes from 20 panels, annotating known and novel pathogenic variants and assessing their penetrance and impact on the measured traits.

Results

We find that 62.5% of participants are carriers of at least 1 known pathogenic variant relating to recessive conditions

SUBMITTER: Aamer W 

PROVIDER: S-EPMC11000384 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature