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Ensembl调控构建

The ensembl regulatory build.

作者信息

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

机构信息

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.

出版信息

Genome Biol. 2015 Mar 24;16(1):56. doi: 10.1186/s13059-015-0621-5.

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.

摘要

大多数与表型特征或疾病相关的基因组变异并不位于基因编码区域,而是在调控区域,这使得对它们的解读变得困难。我们收集了关于人类细胞类型中表观遗传标记和转录因子结合的公共数据,并利用这些数据构建了人类基因组调控区域的直观总结。我们通过独立检测验证了其敏感性。当有更多数据可用时,Ensembl调控构建将逐步得到丰富。它可在Ensembl浏览器、Ensembl调控MySQL数据库服务器以及专用的轨道中心免费获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c18a/4407537/541fdba81f49/13059_2015_621_Fig1_HTML.jpg

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