Large-scale sequencing has enabled unparalleled opportunities to investigate the role of
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …

Background: Individuals of South Asian ancestry represent 23% of the global population,
corresponding to 1.8 billion people, and have substantially higher risk of atherosclerotic …

Premature coronary artery disease (CAD) is endemic in India. Global Burden of Diseases
study has reported that it led to 286,000 deaths in 2019 in India. Many of these patients have …

Diseases of the human nervous system are an important cause of morbidity and mortality
worldwide. These disorders arise out of multiple aetiologies of which rare genetic mutations …

Previous genetic and public health research in the Pakistani population has focused on the
role of consanguinity in increasing recessive disease risk, but little is known about its recent …

Background Recent studies have advanced our understanding of the genetic drivers of
Parkinson's disease (PD). Rare variants in more than 20 genes are considered causal for …

India has been underrepresented in whole genome sequencing studies. We generated
2,762 high coverage genomes from India—including individuals from most geographic …

Inherited genetic disorders are progressive in nature and lead to organ dysfunction or death
in severe cases. At present, there are no permanent treatment options for> 95% of inherited …

The genetic factors of stroke in South Asians are largely unexplored. Exome-wide
sequencing and association analysis (ExWAS) in 75 K Pakistanis identified NM_000435. 3 …

South Asia, making up around 25% of the world's population, encompasses a wide range of
individuals with tremendous genetic and environmental diversity. This region, which spans …