Chris Mungall
@chrismungall
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ID: 19600791
http://berkeleybop.org/people/chris-mungall/ 27-01-2009 16:45:21
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New work by my former student (now Prof) Azza Althagafi on phenotype-based prioritization of genetic variants for #RareDisease The work demonstrates how neurosymbolic AI can be used in domains like #RareDisease with little training data biorxiv.org/content/10.110…
Hey Docker: Build 39X Faster, what's with the sudden revoking of our sponsored open source subscription? We are getting this for LinkML - Linked (Open) Data Modeling Language and colleagues getting the same thing for OBO Foundry. 🙏 for the O/S subscription, but more advance warning of its cancelation would have been nice☹️
Benchmarking #variantprioritzation tools for #raredisease diagnostics is critical! See Monarch Initiative new eval framework at: pubmed.ncbi.nlm.nih.gov/38915571/ and rebuttal of recent tool at: zenodo.org/records/127548…