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The Nature Genetics study published on November 4, 2026, characterized 1,882 Qatar Biobank participants by integrating blood RNA sequencing, whole-genome sequencing and phenotypic data across 45 clinically relevant traits. Researchers at Sidra Medicine, a member of Qatar Foundation, created the atlas to show how genetic variation regulates gene activity in blood while tracing effects to clinical traits. The work addresses a major gap in global genomics for Arab and Middle Eastern populations where diversity and consanguinity effects have been understudied. According to the study, this catalog provides a resource for more precise genetic diagnosis, disease-risk prediction, biomarker discovery and therapeutic targets.
The research team applied advanced computational techniques that uncovered nearly 30,000 causal effects controlling genome transcription and linked them to 20 clinical traits including immune and metabolic functions. The Nature Genetics paper reported cataloging around 7 million significant quantitative trait loci from both short and structural variants impacting gene expression, isoform usage, splicing and allele-specific expression. This process uncovered 1,379 novel eGenes while identifying QTLs with recessive deleterious effects on 10 Mendelian disease genes. Homozygous QTLs causing extreme outlier expression appeared in 66 genes including several dosage-sensitive ones.
Colocalization analysis in the Sidra Medicine-led project revealed 58 causal variants acting on 20 clinically relevant phenotypes and implicated novel genes such as ATP6V0B and RQCD1 in metabolic and blood disorders. The Peninsula Qatar reported that the study drew on whole-genome sequencing, whole-blood transcriptomics and detailed clinical information from the participants. This approach moved beyond conventional associations to connect DNA-level variation directly to gene regulation and health outcomes. The resulting atlas establishes a valuable Middle Eastern resource for genome interpretation and genomic medicine.
This latest effort builds on Sidra Medicine’s 2024 research that analyzed more than 6,000 whole genomes to establish the largest catalogue of rare genetic disease risk in the Middle East across ancestries including Peninsular Arabs, General Arabs, Persian Arabs and African Arabs. A Sidra Medicine announcement at the time noted that the earlier work identified ancestry-specific founder mutations to support screening, genetic counseling and improved annotation of global databases such as ClinVar. The new transcriptome regulation catalog complements those findings by focusing on regulatory mechanisms in a consanguineous population. Qatar Biobank data continues to serve as a cornerstone for such regional genomic initiatives.
Prof. Younes Mokrab, principal investigator in genome and biomedicine informatics and director of the neuroscience research program at Sidra Medicine, led the project with Dr. Haroon Naeem as first author. A separate January 2026 Sidra Medicine study conducted with King’s College London produced the most detailed map of large-scale genomic differences in the Qatari population and identified over 150,000 structural variants, more than 12,000 of which affected gene regions tied to cardiometabolic health. That project aligned with the elevated prevalence of related diseases in the population. The combined body of research from Sidra Medicine steadily narrows representation gaps that have limited precision medicine accuracy for Arab communities.
The catalog’s integration of transcriptomic, genomic and clinical data from the same cohort enabled direct links between regulatory QTLs and observable phenotypes in understudied groups. Findings from the Nature Genetics study support discovery of new biomarkers and therapeutic targets tailored to Middle Eastern genetic backgrounds. Colocalization with GWAS signals on clinical phenotypes from the Qatar Biobank cohort strengthened these associations. This resource is expected to improve disease-risk prediction models used in regional healthcare settings.
