Gene-RD-provenance_V2 nanopublication

2019-04-01T09:49:06Z (GMT) by Friederike Ehrhart Egon Willighagen
This study produced a mapping dataset which links rare, monogenic diseases to their causative genes (and vice versa), backed up by provenance, the publication which prove the genetic cause for a disease for the first time. The data is annotated with OMIM identifiers (disease), gene identifiers (HGNC and Ensembl) and PubMed identifiers for the literature. Based on this spreadsheet we used a modified version of the DisGeNET semantic model to produce a RDF nanopublication file.