Study examines genomes of 53,000 people to better understand disease

Study examines genomes of 53,000 people to better understand disease, The analysis Identified 400 million genetic variants, 97% of which were very rare with less than 1% of people having the variant.

Researchers from the University of Virginia have analyzed the full genome sequences of over 53,000 people, the majority of whom are from minority groups, in order to better understand heart, lung, blood and sleep disorders.

People from minority groups have historically been underrepresented in genetic studies, leading researchers to hope that this research can lead to a better understanding of how these disorders affect minority communities and reduce historic health disparities.

Study examines genomes of 53,000 people to better understand disease

The analysis Identified 400 million genetic variants, 97% of which were very rare with fewer than 1% of people having the variant. Some 78% of the genetic variants analyzed have never been described beforehand.

The analysis was completed as part of the Trans-Omics for Precision Medicine (TOPMed) program and was published in the scientific journal nature. The program looked to examine how various illnesses affect minorities, which have not been studied as comprehensively in the past, a disparity which has been heavily felt around the world during the COVID-19 pandemic.

“An important feature of TOPMed is not only publishing the genomic data on 53,000 people with massive amounts of data related to heart, lung, blood and sleep disorders but also the great diversity of the participants who donated their blood and data,” said UVA School of medicine researcher Stephen S. Rich, PhD.

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“TOPMed is an important and historic effort to include under-represented minority participants in genetic studies,” said Rich, “The work of TOPMed should translate not only into better scientific knowledge but increase diversity at all levels – scientists, trainees, participants – in work to extend personalized medicine for everyone.”

The goal of the company’s research is to improve medical treatments for patients on an individual level, as well as learning about the structure of heart, lung and blood systems to be able to prevent disease which damage them.

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