Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.

ABSTRACT: The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole-genome sequencing of individuals with rich phenotypic data and diverse backgrounds. Here we describe the TOPMed goals and design as well as the available resources and early insights obtained from the sequence data. The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes)¹. In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and ins

SUBMITTER: Taliun D 

PROVIDER: S-EPMC7875770 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature