Founder mutations and rare disease in the Arab world

D Marafi - Disease Models & Mechanisms, 2024 - journals.biologists.com
Founder mutations are disease-causing variants that occur frequently in geographically or
culturally isolated groups whose shared ancestor (s) carried the pathogenic variant. While …

Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project

S Fatumo, A Yakubu, O Oyedele, J Popoola… - Nature Genetics, 2022 - nature.com
To leverage the genetic diversity in Nigeria, we established the Non-Communicable
Diseases Genetic Heritage Study (NCD-GHS) consortium to help produce a comprehensive …

Qatar genome: Insights on genomics from the Middle East

H Mbarek, G Devadoss Gandhi, S Selvaraj… - Human …, 2022 - Wiley Online Library
Despite recent biomedical breakthroughs and large genomic studies growing momentum,
the Middle Eastern population, home to over 400 million people, is underrepresented in the …

Imputation accuracy across global human populations

JL Cahoon, X Rui, E Tang, C Simons, J Langie… - The American Journal of …, 2024 - cell.com
Genotype imputation is now fundamental for genome-wide association studies but lacks
fairness due to the underrepresentation of references from non-European ancestries. The …

Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study

M Saad, Y Mokrab, N Halabi, J Shan, R Razali… - The Lancet …, 2022 - thelancet.com
Background Disparities in the genetic risk of cancer among various ancestry groups and
populations remain poorly defined. This challenge is even more acute for Middle Eastern …

Mapping the Arab genome

H Mbarek, SI Ismail - Nature genetics, 2022 - nature.com
Mapping the Arab genome | Nature Genetics Skip to main content Thank you for visiting
nature.com. You are using a browser version with limited support for CSS. To obtain the …

The Qatari population's genetic structure and gene flow as revealed by the Y chromosome

EK Almohammed, A Hadi, M Al-Asmakh, H Lazim - Plos one, 2023 - journals.plos.org
The Y-chromosome has been widely used in forensic genetic applications and human
population genetic studies due to its uniparental origins. A large database on the Qatari …

QPGx‐CARES: Qatar pharmacogenetics clinical applications and research enhancement strategies

R Abdel‐latif, R Badji, S Mohammed… - Clinical and …, 2024 - Wiley Online Library
Pharmacogenetic (PGx)‐informed medication prescription is a cutting‐edge genomic
application in contemporary medicine, offering the potential to overcome the conventional …

[HTML][HTML] Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort

A Ben-Mahmoud, V Gupta, A Abdelaleem… - International Journal of …, 2024 - mdpi.com
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits
in social communication, restricted interests, and repetitive behaviors. Despite considerable …

The QChip1 knowledgebase and microarray for precision medicine in Qatar

JL Rodriguez-Flores, R Messai-Badji, A Robay… - NPJ Genomic …, 2022 - nature.com
Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations,
but pathogenic risk variants that cause SGDs are typically population-private. The goal was …