EP News: Basic and Translational

  • Nipavan Chiamvimonvat
    Address reprint requests and correspondence: Dr Nipavan Chiamvimonvat, Department of Internal Medicine and Pharmacology, University of California, Davis, GBSF 6315, 451 Health Sciences Dr, Davis, CA 95616.
    Department of Internal Medicine and Pharmacology, University of California, Davis, Davis, California
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      This report from the Trans-Omics for Precision Medicine (TOPMed) program by Taliun et al (Nature 2021;590:290–299; PMID 33568819) seeks to elucidate the genetic architecture and biology of heart, lung, blood, and sleep disorders, with the ultimate goal of improving the diagnosis, treatment, and prevention of these diseases. The initial phases focused on whole-genome sequencing of individuals with phenotypic data and diverse backgrounds. The current report provides the available resources for scientific communities, including a variant browser, a genotype imputation server, and genomic and phenotypic data, available through dbGaP (Database of Genotypes and Phenotypes). In the first 53,831 TOPMed samples, more than 400 million single-nucleotide and insertion or deletion variants were detected, of which 97% have frequencies of <1%, and 46% are singletons that are present in only 1 individual. The authors conclude that the extensive genetic variations from TOPMed studies provide unique opportunities for exploring the contributions of rare and noncoding sequence variants to phenotypic variation.
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