ArticleEuropean journal of human genetics : EJHG2024
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Inborn Errors of Immunity Genotype: A Retrospective Study from the United Arab Emirates.Journal of clinical immunology · 2026Article
- gAIRR-wgs: high-resolution T cell receptor allele typing in biobank-scale whole-genome sequencing data.Briefings in bioinformatics · 2026Article
- Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population.International journal of molecular sciences · 2026Article
- The prevalence of pathogenic variants in medically actionable genes among individuals with idiopathic hypogonadotropic hypogonadism/Kallmann syndrome.Journal of assisted reproduction and genetics · 2026Article
- Article
- From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.Biomedicines · 2025Article
- Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.Molecular genetics & genomic medicine · 2025Article
- Opportunities and Challenges of Population Pharmacogenomics.Annals of human genetics · 2025Review
- ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing.Journal of human genetics · 2025Article
- Study design and the sampling of deleterious rare variants in biobank-scale datasets.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Genomic sequencing: the case for equity of care in the era of personalized medicine.Pediatric research · 2025Review
- Looking back at 2024 in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2025Article
- Patterns of population structure and genetic variation within the Saudi Arabian population.bioRxiv : the preprint server for biology · 2025Article
- Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?PloS one · 2025Article
- November in EJHG: looking at genetic counsellor training in Europe, novel clinical guidelines and ancestral impact on variant interpretation.European journal of human genetics : EJHG · 2024Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Arabic populations are underrepresented in large genome projects; therefore, the frequency of clinically actionable variants among Arabs is largely unknown. Here, we investigated genetic variation in 14,392 whole genomes from the Qatar Genome Program (QGP) across the list of 78 actionable genes (v3.1) determined by the American College of Medical Genetics and Genomics (ACMG). Variants were categorized into one of the following groups: (1) Pathogenic (P), (2) Likely pathogenic (LP), and (3) Rare variants of uncertain significance with evidence of pathogenicity. For the classification, we used variant databases, effect predictors, and the disease-relevant phenotypes available for the cohort. Data on cardiovascular disease, cancer, and hypercholesterolemia allowed us to assess the disease-relevant phenotype association of rare missense variants. We identified 248 distinct variants in 50 ACMG genes that fulfilled our criteria to be included in one of the three groups affecting 1036 genotype-positive participants of the QGP cohort. The most frequent variants were in TTN, followed by RYR1 and ATP7B. The prevalence of reportable secondary findings was 3.5%. A further 46 heterozygous variants in six genes with an autosomal recessive mode of inheritance were detected in 200 individuals, accounting for an additional 1.4%. Altogether, they affect 5% of the population. Due to the high consanguinity rate in the QGP cohort (28% in spouses and 60% in parents), P and LP variants both in genes with dominant and recessive inheritance are important for developing better treatment options and preventive strategies in Qatar and the Arabic population of the Middle East.
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