Table S4. Validation set including a “positive” set of 70 SNVs in non-coding regions of protein-coding genes newly reported in recent updates of the HGMD and ClinVar databases, and a “negative” set of
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). A
There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evide
The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that
