eGenes in mendelian disorders
datasetposted on 07.11.2018 by Tayaza Fadason, William Schierding, Thomas Lumley, Justin O'Sullivan
Datasets usually provide raw data for analysis. This raw data often comes in spreadsheet form, but can be any collection of data, on which analysis can be performed.
Chromatin interactions (using Hi-C) and functional (using eQTL) data were used to identify long-range regulatory associations involving >20,000 GWAS variants and their target genes (i.e. eGenes). Analysis of the OMIM data shows that eGenes, which are also involved in rare Mendelian disorders are spatially associated with eQTLs marked by common variants. These eGenes are given, together with the phenotypes they are associated with.