Closed HelenaCornu closed 2 years ago
Probes and drugs new curation hyperlink
Re P&D: we were only pulling from this resource already, but now it is clearer than we are using their data and we are not referencing primary sources like ChemicalProbes.org. We have also updated the data to their latest release 02.2022 https://www.probes-drugs.org/news#45
Re burden studies: we have curated 2 studies, one for autism (PMID:35982159) and one regarding protective associations to body fat (PMID:35999217). I remember a lot of buzz on Twitter when the autism study was out. You have more information about each in the ticket https://github.com/opentargets/issues/issues/2701
Re: decrease in the number of diseases. Yes, this is due to a bug. There are not any major updates from them since June.
Re: Genomics England. This source has been updated after 2 years. This version includes less panels but of a better quality. The thing to mention here is that we include the panels signed off by the NHS in their genomic testing strategy to identify rare and inherited diseases.
These panels are like a more curated version of what you can find in Panel App and is available in an independent website https://nhsgms-panelapp.genomicsengland.co.uk. We integrate associations from here.
Another release, another set of questions for @ireneisdoomed 💛
Release notes:
The main points from @buniello are:
Questions: