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The Ensembl Regulatory Build

2015; Springer Science+Business Media; Volume: 16; Issue: 1 Linguagem: Inglês

10.1186/s13059-015-0621-5

1465-6914

Daniel R. Zerbino, Steven P. Wilder, Nathan Johnson, Thomas Juettemann, Paul Flicek,

Cancer-related gene regulation

Abstract Most genomic variants associated with phenotypic traits or disease do not fall within gene coding regions, but in regulatory regions, rendering their interpretation difficult. We collected public data on epigenetic marks and transcription factor binding in human cell types and used it to construct an intuitive summary of regulatory regions in the human genome. We verified it against independent assays for sensitivity. The Ensembl Regulatory Build will be progressively enriched when more data is made available. It is freely available on the Ensembl browser, from the Ensembl Regulation MySQL database server and in a dedicated track hub.