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Endogamy and high prevalence of deleterious mutations in India: evidence from strong founder events.

Journal of genetics and genomics = Yi chuan xue bao - 1 Apr 2025

Machha Pratheusa, Gopalan Amirtha, Elangovan Yamini, Veeravalli Sarath Chandra Mouli, Sowpati Divya Tej, Thangaraj Kumarasamy

Abstract excerpt

Founder events influence recessive diseases in highly endogamous populations. Several Indian populations have experienced significant founder events due to strict endogamy. However, the clinical implications of it remain underexplored. Therefore, we perform whole-exome sequencing of 281 individuals from four South Indian populations, characterized by high IBD scores. Our study reveals a high inbreeding rate of...

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PMID: 39955025
DOI: 10.1016/j.jgg.2025.02.001

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