Epigenomics

Detailed description of the NIH Roadmap Epigenomics Mapping Consortium, its goals, experimental strategies, data pipeline, and the production of reference epigenomes across diverse human cell types and tissues.

The NIH Roadmap Epigenomics Mapping Consortium launched as a public resource of human epigenomic data. Goals included producing a reference set of histone modification, DNA accessibility, DNA methylation, and RNA expression maps across a broad range of human cell types and tissues.

Continued expansion of TOPMed WGS to over 100k participants across >50 NHLBI cohort studies. Integration of whole-genome sequencing with epigenomics, transcriptomics, proteomics, and metabolomics data. Open access to sequencing data and variant annotations through the BRAVEO browser and dbGaP, serving as a critical resource for the global genetics community.