eGenes in mendelian disorders Tayaza Fadason William Schierding Thomas Lumley Justin O'Sullivan 10.17608/k6.auckland.7295843.v2 https://auckland.figshare.com/articles/dataset/Supplementary_Data_5_eGenes_in_mendelian_disorders/7295843 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. 2018-11-07 13:50:15 OMIM GWAS SNPs eQTLs Hi-C Quantitative Genetics (incl. Disease and Trait Mapping Genetics) Medical Genetics (excl. Cancer Genetics) Genetics