Chris Mungall
@chrismungall
linkedin.com/in/chrismungalโฆ
bsky.app/profile/cmungaโฆ
genomic.social/@Cmungall threads.net/@chrisjmungall
ID: 19600791
http://berkeleybop.org/people/chris-mungall/ 27-01-2009 16:45:21
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๐Closer to bridging the gap between #biodiversity #omics data standards! ๐Methods paper - part of the BiCIKL_H2020 collection - reports on building sustainable #interoperability between TDWG's Darwin Core and MIxS. Find more: blog.pensoft.net/2023/10/04/advโฆ #GEOBONconf2023 #TDWG2023
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/10.110โฆ
Hey Docker, 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. ๐ for the O/S subscription, but more advance warning of its cancelation would have been niceโน๏ธ
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/127548โฆ
๐ง๐ต๐ฒ ๐๐ฒ๐ป๐ผ๐บ๐ถ๐ฐ ๐๐ผ๐ฑ๐ฒ - ๐๐ต๐ฒ ๐ด๐ฒ๐ป๐ผ๐บ๐ฒ ๐ถ๐ป๐๐๐ฎ๐ป๐๐ถ๐ฎ๐๐ฒ๐ ๐ฎ ๐ด๐ฒ๐ป๐ฒ๐ฟ๐ฎ๐๐ถ๐๐ฒ ๐บ๐ผ๐ฑ๐ฒ๐น ๐ผ๐ณ ๐๐ต๐ฒ ๐ผ๐ฟ๐ด๐ฎ๐ป๐ถ๐๐บ ๐งฌ arxiv.org/abs/2407.15908- very excited to share this new preprint from me and Nick Cheney ๐๐งต
Nice explainer on Gene Ontology @[email protected] from Parmita Mishra !