March 1, 2021

Cristen Willer and Goncalo Abecasis: Published in Nature

In a landmark study published in Nature this February, researchers explain how they’re using existing data, sophisticated algorithms and collaboration to look into human evolution at the genetic level after sequencing the whole genome of 53,831 people of diverse genetic backgrounds.

Researchers hope their work will eventually lead to the improvement of disease diagnoses, treatment and prevention.

The TOPMed project provides an important contribution for identifying and understanding the impact of genetic variation on heritable diseases. The dataset now consists of more than 150,000 individuals from diverse backgrounds. In addition to sequencing data, TOPMed now encompasses other genomics data such as RNA-seq, methylation and metabolomics. You can explore the sequencing data on the BRAVO variant browser.