Hi everyone,
I was wondering if you could refer me to a bunch of top-notch bioinformatics tools & databases for genetics disorders. Such database and tools allow to review genetics disorders data, info and enable you to conduct basic and more complex data analysis.
Thank you in advance
To elaborate on @EricLim suggestion, the Open Targets Platform uses genetics, omics and chemical information to associate genes (our proxies to drug targets) with diseases (both Mendelian, rare diseases and more common, complex ones). Open Targets is also available in programmatic access with our REST API. This is great for more complex (and flexible) analysis. The Open Targets Platform REST API documentation gives more details.
As a heads-up, Open Targets will be launching a new database and GUI in the upcoming ASHG 2018 as an interactive invited workshop. This new tool will help us to map disease-gene relationships based on GWAS hits, LD expansion and functional genomics. More to follow.
I've been using the platform for a couple of months now. My experience has been largely positive!
Do you have plans on integrating prevalence statistics (Orphanet for example) into the application, as well as annotations such as autosomal dominant/recessive and haploinsufficiency?
Yes, we do have plans to include disease prevalence in the Disease profile page such as the profile page for Duchenne muscular dystrophy. This would come from WHO and Orphanet. However we cannot give you a timeline for this...
As per HI genes we may be able to add this annotation to our Target profile pages. Do you have other source of information than the one available in Decipher?
p.s. interested in knowing where the Open Targets Platform falls short i.e. which aspects of it are not largely positive? But for that, perhaps email our Support? :)
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version 2.3.6
https://www.targetvalidation.org/
Human Gene Mutation Database
OMIM is the most extensive one I know of.