About us
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Trans-Omics for Precision Medicine (TOPMed)
Integrates sequencing and “omics” data into large studies of human health data
Trans-Omics for Precision Medicine (TOPMed) aims to integrate whole-genome sequencing and data from other “omics” (such as epigenomics or protein expression) into larger studies with rich stores of molecular, behavioural, imaging, environmental, and clinical data. This initiative of the National Heart, Lung, and Blood Institute at the U.S. National Institutes of Health focuses on heart, lung, blood, and sleep disorders.
Location
Thematic Area
Champions
- Albert Smith
- Alastair Thomson
- Weiniu Gan
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GA4GH implementations
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NHLBI TOPMed BioData Catalyst
This is a full implementation of the DRS v1.1 standard with support for persistent identifiers. The open-source DRS server follows the Gen3 implementation. Gen3 is a GA4GH-compliant, open-source platform for developing framework services and data commons. Data commons accelerate and democratize the process of scientific discovery, especially over large or complex datasets. Gen3 is maintained by the Center for Translational Data Science at the University of Chicago. https://gen3.org