The NHLBI Trans-Omics for Precision Medicine (TOPMed) program aims to provide high- priority studies of heart, lung, blood and sleep disorders (HLBS) with high-quality genomic data. This year, the program will deeply sequence >60,000 genomes to characterize DNA sequence variation at scale. It is expected that >400 million genetic variants will be identified. In later phases, it is expected that rich genomic assays will be applied to an equally large number of samples.

Introduction slides from 6/16/17 Analysis Committee call  (log-in required)

There is increasing recognition that rare, non-coding, and structural genomic variations are all important contributors to disease risk. We propose to create a graphical map of all the variations found by the TOPMed consortium - ultimately incorporating information from 100,000 genomes - that will allow unbiased analysis of all forms of variation in concert.