Robert Hoehndorf
@leechuck
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🧬 Proud to share our new paper! A complete genome assembly from Saudi Arabia (KSA001), freely available to all. Special shoutout to @coolmaksat for leading the bioinformatics. Also hard work to get this IRB-approved
nature.com
Scientific Data - A reference quality, fully annotated diploid genome from a Saudi individual
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Billions of statements in biological knowledge graphs! Millions of nodes, billions of triples. Neurosymbolic methods are not yet ready to handle this data. (From @CPesquita's keynote at #NeSy2024).
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At the #nesy2024 keynote today, @CPesquita highlights how medical and biological research was one main driver in the developments in logic and AI throughout history - in the words of Galen, "That the best doctor is also a philosopher" #nesy2024.
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What can life sciences do for neuro-symbolic AI? Excited for the #bioinformatics-related keynote by @CPesquita at #NeSy2024 - starting soon!.
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Happy to be at #NeSy2024 in Barcelona, just opened by @ejimenez_ruiz. First session on #XAI just starting.
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RT @ChenJiaoyan1: We recently wrote a survey on #ontology #embedding. Great contributions from @leechuck Olga and Fernando from @CBRC_KAUST….
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@azzathamer Read the article to find out how the neurosymbolic model learns to interpret different types of evidence (from model organism phenotypes over #GeneOntology functions to anatomical site of gene expression) and finally link the variant to #RareDisease phenotypes.
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Latest work by my former student @azzathamer on using #neurosymbolicAI and biomedical ontologies to help diagnose #RareDisease is now online:
academic.oup.com
AbstractMotivation. Whole-exome and genome sequencing have become common tools in diagnosing patients with rare diseases. Despite their success, this appro
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Really happy to host @ChenJiaoyan1 at @KAUST_News - learned a lot about #neurosymbolic AI on the #SemanticWeb, #ontology embeddings, and using #LLM for knowledge engineering.
Invited by @leechuck , made an one-hour seminar in @CBRC_KAUST on "Neural-symbolic Knowledge Representation with Ontology and Knowledge Graph Embeddings" and had a lot of interesting discussion. It's a super pleasant trip.
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RT @Nicky_Mulder: We have brought together about 25 people for an @H3ABioNet African reference graph/pangenome and T2T hackathon in Cape To….
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New work by my former student (now Prof) @azzathamer 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
Motivation Whole-exome and genome sequencing have become common tools in diagnosing patients with rare diseases. Despite their success, this approach leaves many patients undiagnosed. A common...
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@CBRC_KAUST @SarahAl33162257 Right afterwards, @azzathamer will defend her PhD thesis on variant prioritization with phenotype ontologies and machine learning Again, let me know if you like to attend.
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Today is an exciting day @CBRC_Kaust: first, my student @SarahAl33162257 will defend her PhD thesis on ontology design patterns and phenotype ontologies. Msg me if you like to join by Zoom and hear about integrating and evaluating ontologies!.
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Finally arrived in Japan for #biohackjp (first time after the long COVID break). Still waiting for my flight to Tokamatsu, seems I will arrive 2 hours late for the symposium; hope I am still let in!.
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RT @Michael_J_Black: PhD students, don't worry. Technologies, trends, and even whole fields come and go. A PhD makes you an expert in a fie….
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RT @Sulaiman_dk: العودة إلى الحياة بعد رحلة علمية استكشافية في صحراء #الربع_الخالي . رحلة هدفها هو فهم سلوك الميكروبات وعلم الميكروبيوم في….
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