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quinlan-lab / pathoscore

pathoscore evaluates variant pathogenicity tools and scores.
MIT License
21 stars 8 forks source link

new set of pathogenic variants #61

Open brentp opened 6 years ago

brentp commented 6 years ago

https://content.iospress.com/articles/translational-science-of-rare-diseases/trd027

brentp commented 6 years ago

downloadable from here: http://dpv.cmg.med.keio.ac.jp/dpv-pub/variants at bottom of page.

jimhavrilla commented 6 years ago

Cool, a Japanese specific set. Nice find @brentp

jimhavrilla commented 6 years ago

Like PrimateAI, no direct link. I asked Dr. Kenjiro Kosaki, the corresponding author for permission to host it, we'll see what he says.

brentp commented 6 years ago

I added a link to the download page

jimhavrilla commented 6 years ago

Right, but it is a Javascript link that loads the file. There is no way to curl or wget.

jimhavrilla commented 5 years ago

Dr. Kosaki never wrote me back...maybe a language barrier? I could try writing him again...