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Genome analysis of more than 53,000 people provides valuable insights into dangerous diseases

A new analysis of the entire genetic makeup of more than 53,000 people provides a treasure trove of valuable insights into heart, lung, blood and sleep disorders, and new and better for treating and preventing some of the most common causes of disorders. Pave the way for the way. death.

Stephen S, a genetics researcher at the School of Medicine. Rich, PhD helped lead large-scale genome analysis of more than 53,000 people. Image Credit: UVA Health

Analysis of the Trans-Omics for Precision Medicine (TOPMed) program examines the complete genome of 53,831 people from different backgrounds on different continents. Most are from minority groups that have historically been underestimated in genetic studies. Increased expression should lead to a better understanding of how heart, lung, blood and sleep disorders affect minority and help reduce long-standing health inequalities.

The Human Genome Project has created many promises and opportunities for applying genomics to precision medicine, and the TOPMed program is a major step in this direction. An important function of TOPMed is not only to publish the genome data of 53,000 people, including a large amount of data related to heart, lung, blood and sleep disorders, but also to publish the diversity of participants who donated blood and data. is. “

Dr. Stephen S. Rich, Genetics Researcher and Project Leader, University of Virginia School of Medicine

Historical genome analysis

Breakthrough studies have identified 400 million genetic variants, of which more than 78% have never been described. Nearly 97% were very rare and occurred in less than 1% of people. Researchers say this sheds light on both how genes mutate and human evolution itself.

Researchers found that Africans had the greatest genetic diversity in the group studied. The resulting data is the best ever produced for African ancestors, scientists report in the prestigious journal Nature.

The study also provides important new insights into certain genetic variants that may reduce the ability of people to benefit from prescription drugs. This depends on race and ethnicity.

“TOP Med is an important and historic effort to get minority minority participants involved in genetic research,” said Rich, who was a member of the project’s executive committee and chaired the steering committee. Stated. “TOPMed’s work not only leads to better scientific knowledge, but it also needs to increase diversity at all levels, including scientists, trainees and participants, in the work of extending personalized medicine to all. . “

Lich was joined by Dr. Animanicir of UVA in this effort. Joe Mychaleckyj, DPhil; and Aakrosh Ratan, PhD. All four are part of both the Public Health Genomics Center and UVA’s Department of Public Health Sciences.

About TOP Med research

UVA researchers were part of an international team of more than 180 leading genomics experts analyzing vast amounts of data from TOPMed, a project of the National Institute of Cardiopulmonary and Blood Research of the National Institutes of Health.

However, this is really just the beginning. Scientists say their efforts ultimately generate important insights into the “genetic structure” of the heart, lungs, and blood systems, and new ways to prevent, treat, and treat the worst illnesses that plague those systems. I want to be connected.

In particular, we hope that their findings will help advance precision medicine tailored specifically to the needs of individual patients.

The current TOPMed publication reports on 53,000 participants, but it’s really just the beginning. TOPMed has already performed whole-genome sequencing on diverse individuals of over 140,000 ancestors, providing deeper insights into how genomics addresses issues related to human health and disease. “

Dr. Stephen S. Rich, Genetics Researcher and Project Leader, University of Virginia School of Medicine

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Source:

Journal reference:

Talyun, D. , et al. (2021) Sequencing of 53,831 diverse genomes from the NHLBITOP Med program. Nature. doi.org/10.1038/s41586-021-03205-y..

Genome analysis of more than 53,000 people provides valuable insights into dangerous diseases

Source link Genome analysis of more than 53,000 people provides valuable insights into dangerous diseases

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