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Article

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.

European journal of human genetics : EJHG - 1 Nov 2024

Elfatih Amal, Saad Chadi, Mifsud Borbala, Mbarek Hamdi

Abstract excerpt

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...

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Identifiers

PMID: 39020067
DOI: 10.1038/s41431-024-01656-1
PMCID: PMC11576737

Genes

ATP7B
RYR1
TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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