An Trans-omics for Precision Medicine, or TOPMed program initial report, covering a large-scale sequencing study of more than 53,800 diverse human genomes, was released today. The findings appear in the journal Nature.
The overarching goal of TOPMed is to advance a more individualized, tailored approach to assessing risk for and diagnosing and treating common, debilitating diseases. These include heart, lung, blood and sleep disorders.
The program's participant selection attempts to represent populations with ancestral origins in Africa, Asia, the Americas, Europe, as well as some other specific groups,such as the Amish, who marry within their religion.
The project's early report highlights that more than 400 million genomic variants appear among its study participants. While the total is large, many of the variants are rare. The scientists discuss analyzing variants to understand which parts of the human genome are prone to variations.
