Rare coding variant analysis for human diseases across biobanks and ancestries
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 …
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …
Quantifying and understanding the higher risk of atherosclerotic cardiovascular disease among South Asian individuals: results from the UK Biobank prospective …
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 …
corresponding to 1.8 billion people, and have substantially higher risk of atherosclerotic …
[HTML][HTML] Genetics-based risk scores for prediction of premature coronary artery disease
R Gupta - Indian Heart Journal, 2023 - Elsevier
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 …
study has reported that it led to 286,000 deaths in 2019 in India. Many of these patients have …
Challenges and opportunities for discovering the biology of rare genetic diseases of the brain
P Raghu, Y Sharma, ABNS Devi, H Krishnan - Journal of Biosciences, 2024 - Springer
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 …
worldwide. These disorders arise out of multiple aetiologies of which rare genetic mutations …
Fine-scale population structure and demographic history of British Pakistanis
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 …
role of consanguinity in increasing recessive disease risk, but little is known about its recent …
The genetic drivers of juvenile, Young, and early‐onset Parkinson's disease in India
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 …
Parkinson's disease (PD). Rare variants in more than 20 genes are considered causal for …
[HTML][HTML] 50,000 years of Evolutionary History of India: Insights from~ 2,700 Whole Genome Sequences
India has been underrepresented in whole genome sequencing studies. We generated
2,762 high coverage genomes from India—including individuals from most geographic …
2,762 high coverage genomes from India—including individuals from most geographic …
An integrated approach to predict genetic risk for Mosquito-Borne diseases in the local Population of Tehsil Haripur, Khyber Pakhtunkhwa, Pakistan
Highly variable response shown by individuals against mosquito-borne infections suggests
that host genetic factors play an important role in determining mosquito-borne disease …
that host genetic factors play an important role in determining mosquito-borne disease …
Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores
Correct classification of type 1 (T1D) and type 2 diabetes (T2D) is challenging due to
overlap** clinical features and the increasingly early onset of T2D, particularly in South …
overlap** clinical features and the increasingly early onset of T2D, particularly in South …
Recent developments in gene therapy research in India
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 …
in severe cases. At present, there are no permanent treatment options for> 95% of inherited …