Article

Molecular Epidemiology and Variant Spectrum of Rare Genetic Diseases in the Punjabi Population: A Genomic Perspective from South Asia

2025-11-06

Abstract excerpt

<h4>Background</h4> Rare genetic diseases (RGDs) affect individuals, families, and healthcare systems worldwide. Population-scale genomic data remain largely restricted to Western cohorts with estimated 10,000 RGDs. South Asian populations remain underrepresented in molecular, clinical, and genomic databases. This study presents the first molecular epidemiological analysis of RGDs in the Punjabi population of Pak...

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Literature Corpus work: b8d014ad-e8ca-5cd9-a7e9-d32c57f89be3
DOI: 10.1101/2025.11.05.25339593

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