The paper identifies genetic associations between blood lipid metabolites and cardiometabolic disease loci in South Asian populations using lipidomics data from two studies.

BMC Medicine · Sep 9, 2021Peer-reviewedGenetic & Genomic Medicine

South Asian patient population genetics reveal strong founder effects and high rates of homozygosity - new resources for precision medicine

Jeffrey D. Wall, J. Fah Sathirapongsasuti, Ravi Kr Gupta, Anamitra Barik, Rajesh Kumar, Asif Rasheed, Venkatesan Radha, Saurabh Belsare, Ramesh Menon, Sameer Phalke, Anuradha Mittal, John Z. Fang, Deepak Tanneeru, Manjari Deshmukh, Akshi Bassi, , Andrew S. Peterson

The paper characterizes the genetic structure of South Asian populations, identifies founder effects and high homozygosity, and develops a custom SNP array for genetic studies in the region.

bioRxiv · Oct 2, 2020 · PreprintGenomics

Human knockouts in a cohort with a high rate of consanguinity

Danesh Saleheen, Pradeep Natarajan, Wei Zhao, Asif Rasheed, Sumeet Khetarpal, Hong-Hee Won, Konrad J Karczewski, Anne H ODonnell-Luria, Kaitlin E Samocha, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, , Sekar Kathiresan

The paper identifies homozygous null mutations in 961 genes in a consanguineous Pakistani cohort and reports their phenotypic consequences.

bioRxiv · Nov 12, 2015Genomics