Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

COVID-19 is caused by Severe Acute Respiratory Syndrome Coronavirus-2, which has
infected over thirty eight million individuals worldwide. Emerging evidence indicates that …

Despite recent biomedical breakthroughs and large genomic studies growing momentum,
the Middle Eastern population, home to over 400 million people, is underrepresented in the …

Background The heterogeneity in symptomatology and phenotypic profile attributable to
COVID-19 is widely unknown. The objective of this manuscript is to conduct a trans-ancestry …

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 …

Inflammatory bowel disease (IBD) is an immune-mediated chronic intestinal disorder with
major phenotypes: ulcerative colitis (UC) and Crohn's disease (CD). Multiple studies have …

We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre–α T
cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts at birth persisted …

Given the genomic uniqueness, a local data set is most desired for Indians, who are
underrepresented in existing public databases. We hypothesize patients with rare …

The diffusion of next-generation sequencing technologies has revolutionized research and
diagnosis in the field of rare Mendelian disorders, notably via whole-exome sequencing …

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 …