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Genomic studies of type 1 diabetes have largely concentrated on Western European and North American cohorts, leaving Eastern and Central European populations under-represented and limiting the portabi...

Naturally occurring loss-of-function variants in human genes enable drug target discovery because they mimic pharmacological inhibition of proteins. However, the study of these genetic variants is constrained by their rarity. Sequencing of diverse populations, particularly those enriched in familial relatedness, has been postulated to promote discovery of rare genetic variants1–3. Here we present the Pakistan Genome Resource, a South Asian biobank with high familial relatedness comprising 173,303 participants, who collectively carry naturally occurring homozygous loss-of-function variants in 6,476 genes. We describe the genetic architecture of this population, associations between genes and biomarkers, the distribution of loss-of-function variants across molecular pathways, and recall-by-genotype studies of therapeutically relevant genes. The Pakistan Genome Resource expands the catalogue of human genetic variants, provides a comprehensive genetic reference resource for the Pakistani p

Nature Communications - Here the authors investigate the underlying genetic mechanisms for pathogenic variant carrier phenotype heterogeneity using exomes and clinical phenotypes from the UK and...

Nature Communications - Here the authors investigate the underlying genetic mechanisms for pathogenic variant carrier phenotype heterogeneity using exomes and clinical phenotypes from the UK and...

Screening in partnership with Helix, Inc. could offer Princess Margaret Cancer Centre patients insights into hereditary health risks

Background Pathogenic variants in the DMD gene are associated with dystrophinopathy including Duchenne and Becker muscular dystrophy (DMD/BMD). Targeted DMD gene, gene panels, exomes and genome sequen...

Ultra-rare recessive disorders — homozygous copy number losses on exome · Eur J Hum Genet 2026

In a development that should surprise no one, population scale exome screening finds actionable variants.

Reporter: Aviva Lev-Ari, PhD, RN With $15.5M Grant, EU Consortium to Sequence 1,100 Exomes to Develop Diagnostics for Neurologic Diseases November 28, 2012 By Molika Ashford A consortium of 18 Euro…

By sequencing the exomes of 10,503 individuals living in Pakistan, the authors identify rare predicted loss-of-function mutations that are estimated to knock out genes and correlate these mutations wi...

Bi et al. propose the Senoreverse anti-aging strategy, which aims to reverse the proliferative arrest of senescent cells. Exosomal miR-302b is identified as a Senoreverse candidate that targets the ce...

Missense variants can have a range of functional impacts depending on factors such as the specific a

The Pakistan Genome Resource compiles biobank data from 173,303 individuals with high familial relatedness, broadening the catalogue of human genetic variation and establishing a population-specific genomic reference for Pakistan.