All of Us Office Hours Researcher Presentation, Dr. Rahul Gupta, PhD - May 10th, 2024

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Office Hours: 5/10/2024

Description: Rahul Gupta, Ph.D., an M.D. and Ph.D. student at Harvard Medical Student presents his research using All of Us data, titled Nuclear genetic control of mtDNA homeostasis revealed from >250,000 diverse human genomes.

Mitochondrial DNA (mtDNA) is a high copy-number genome required for oxidative phosphorylation. In this talk, Dr. Gupta will introduce a method to quantify mtDNA copy number and heteroplasmy at scale using WGS data and will showcase its application to UK Biobank and the All of Us Research Program. He will highlight the confounding effects of blood composition on mtDNA abundance and will identify a novel compendium of nuclear loci which can influence common mtDNA heteroplasmy in humans.


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