The Trans-Omics for Precision Medicine (TOPMed) program aims to understand the genetic variations that occur
The ultimate goal of the project is to improve the diagnosis, treatment and prevention of the most common diseases leading to disability or death.
We've already identified some new ideas.For example, the team found more than 400 million genetic variations, but 97% of them are very rare and occur in less than 1% of the population. Gene variations can occur randomly when genes recombine or mutate.
Timothy O'Connor, PhD, is an associate professor of medicine and endocrinology in the Institute for Genomic Sciences (IGS) at UMSOM
This knowledge can provide new understanding of mutation processes and tell us about the history of human evolution.
The increasing diversity of human genomes will help researchers learn more about how specific diseases affect different ethnic groups around the world.
In addition, the group has established uniform standardsfor sequencing: it is carried out on a massive scale. Standards maximize data integrity because a large group of international researchers use common methods.
In addition to the possibility of detailed analysiscombined genomic and medical data for sequenced samples TOPMed has expanded the analysis of genotyped samples with a new reference panel that now includes more than 97,000 people. This data is publicly available, you can study it or enter your own information.
Now the authors continue their research and collect new data for their resource, which they will analyze later.
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