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.