new: "A resource to explore the discovery of rare diseases and their causative genes"

Figure from the article.

The growing open access to literature greatly reduces the cost of making overviews of history of science. Freddie Ehrhart looked into the history of the discovery of monogenic rare diseases, with a particular focus on the identification of genes involved in the cause of the disease (doi:10.1038/s41597-021-00905-y):

We assembled a collection of 4166 rare monogenic diseases and linked them to 3163 causative genes, annotated with OMIM and Ensembl identifiers and HGNC symbols.

The results are made available in FAIR and Open approaches:

• the results can be widely shared: they are licensed CCZero
• we created nanopublications and uploaded these into the international network 
• data was added to Wikidata (see also earlier blogs)
• source code on GitHub