Common disease-associated gene variants in a Saudi Arabian population.

ABSTRACT:

Background

Screening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease variations in Saudi Arabia is high because of the highly consanguineous population. The optimal solution for estimating the carrier frequency of the most prevalent diseases is carrier screening.

Objectives

Identify the most influential recessive alleles associated with disease in the Saudi population.

Design

We used clinical whole-exome sequencing data from an in-house familial database to evaluate the most prevalent genetic variations associated with disease in a Saudi population.

Settings

King Abdullah International Medical Research Center (KAIMRC) and King Abdulaziz Medical City.

Methods

SUBMITTER: Aleissa M 

PROVIDER: S-EPMC8812157 | biostudies-literature | 2022 Jan-Feb

REPOSITORIES: biostudies-literature