[HTML][HTML] Informed consent in biomedical research

FK Dankar, M Gergely, SK Dankar - Computational and structural …, 2019 - Elsevier
Informed consent is the result of tumultuous events in both the clinical and research arenas
over the last 100 years. Throughout this time, the notion of informed consent has shifted …

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 …

Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era

YH Jiang, Y Wang, X Xiu, KW Choy… - Critical Reviews in …, 2014 - Taylor & Francis
A genetic etiology for autism spectrum disorders (ASDs) was first suggested from twin
studies reported in the 1970s. The identification of gene mutations in syndromic ASDs …

The Qatar genome: a population-specific tool for precision medicine in the Middle East

KA Fakhro, MR Staudt, MD Ramstetter… - Human genome …, 2016 - nature.com
Reaching the full potential of precision medicine depends on the quality of personalized
genome interpretation. In order to facilitate precision medicine in regions of the Middle East …

Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes

RM Razali, J Rodriguez-Flores, M Ghorbani… - Nature …, 2021 - nature.com
Arab populations are largely understudied, notably their genetic structure and history. Here
we present an in-depth analysis of 6,218 whole genomes from Qatar, revealing extensive …

Indigenous Arabs are descendants of the earliest split from ancient Eurasian populations

JL Rodriguez-Flores, K Fakhro, F Agosto-Perez… - Genome …, 2016 - genome.cshlp.org
An open question in the history of human migration is the identity of the earliest Eurasian
populations that have left contemporary descendants. The Arabian Peninsula was the initial …

ACE2 and FURIN variants are potential predictors of SARS-CoV-2 outcome: A time to implement precision medicine against COVID-19

F Al-Mulla, A Mohammad, A Al Madhoun, D Haddad… - Heliyon, 2021 - cell.com
The severity of the new COVID-19 pandemic caused by the SARS-CoV-2 virus is strikingly
variable in different global populations. SARS-CoV-2 uses ACE2 as a cell receptor …

Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia

YA Barbitoff, RK Skitchenko… - … Genetics & Genomic …, 2019 - Wiley Online Library
Background Allele frequency data from large exome and genome aggregation projects such
as the Genome Aggregation Database (gnomAD) are of ultimate importance to the …

The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar

S Al‐Khawaga, I Mohammed… - Molecular genetics & …, 2019 - Wiley Online Library
Background Neonatal diabetes mellitus (NDM) is a rare condition that occurs within the first
six months of life. Permanent NDM (PNDM) is caused by mutations in specific genes that are …

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

A Al-Shamsi, JL Hertecant, AK Souid… - Orphanet Journal of Rare …, 2016 - Springer
Background This study reports on the use of whole exome sequencing (WES) to diagnose
children with inborn errors of metabolism and other disorders in United Arab Emirates …