This my collection of annotated metadata
From Analysis of protein-coding genetic variation in 60,706 humans Lek et al.: “ We have used this catalogue to calculate objective metrics of pathogenicity for sequence variants, and to identify genes subject to strong selection against various classes of mutation; identifying 3,230 genes with near-complete depletion of predicted protein-truncating variants, with 72% of these genes having no currently established human disease phenotype.”
The cancer bioMarkers database is curated and maintained by several clinical and scientific experts in the field of precision oncology supported by the European Union’s Horizon 2020 funding. This database is currently being integrated with knowledge databases of other institutions in a collaborative effort of the Global Alliance for Genomics and Health. The contribution of the community is encouraged and proposals of edition or comments about the information contained in this database can be given by contacting us here or by using the feedback icon in the table.