LinkedIn: https://xitter.cf/t.co/UUxTUQV0Q6 Semantically curating genotype-phenotype knowledge #OpenScience #Collaborative #Data

Joined August 2014
Twitter/X no longer aligns with our values; we are intentionally choosing to communicate about our work using other media. More info (including where to find us): monarchinit.medium.com/monar…
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Monarch Initiative retweeted
New video! 🚨 Hear firsthand how @mattmight at @uabprecisionmed used the @MonarchInit resource and ultimately shortened his son's diagnostic and therapeutic odyssey. (ORIP support through R24OD011883) #ORIPResources orip.nih.gov/resource-direct…
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Monarch Initiative retweeted
A Simple Standard for Sharing Ontological Mappings (SSSOM) Workshop for OHDSI Europe #OHDSISocialShowcase #JoinTheJourney Lead: Nicolas Matentzoglu Co-Author: Melissa Haendel Full Poster: loom.ly/YjudDmk
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Our Board Member @monimunozto presenting in #BOSC2023 on standards to connect biomedical and behavioral data to AI in the Bridge2AI program #ISMBECCB2023
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We added a howto guide to the @linkml_data docs on generating AI prompts from LinkML schemas. linkml.io/linkml/howtos/gene…, making use of the new feature in the @OpenAI API to structure results as JSON platform.openai.com/docs/gui… 🧵
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The OntoGPT framework and SPIRES tool by @chrismungall 's team provide a principled approach to extract knowledge graph from unstructured text using GPT. Here is my impression. apex974.com/articles/ontogpt…
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This work would not have been possible w/o the incredible effort of the model organism databases (@mgi_mouse, @ZFINmod, @FlyBaseDotOrg, @wormbase, & @yeastgenome) and pan-species resources like @alliancegenome and @MonarchInit. [13/n]
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Monarch’s very own @NicoMatentzoglu is nominated for the Excellence in #Biocuration Advanced Career Award through @biocurator! Voting is open today through 6 June 2023! biocuration.org/excellence-i… #careerexcellence #weareproudofyou
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Are #LLMs capable of interpreting the results of high-throughput genomics experiments? Given a list of genes (e.g. all genes over expressed under a certain condition), can an LLM tell us what those genes have in common, suggesting underlying biological mechanisms? 🧵
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#Exomiser ranks potential rare Mendelian disease-causing #variants from whole-exome or whole-genome sequencing data. Learn more here: youtu.be/tzwvWkb3s8A #RareDisease #OpenScience #BigData #Collaborative #TranslationalScience #Disease #Genomics #Healthcare
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TOMORROW! Don't miss @monimunozto's presentation about Monarch Initiative's data reuse practices as part of the session “Connecting Phenotypes and Genotypes Using Data Science”, Apr 25 1:15–2:00pm ET. Free registration: us06web.zoom.us/webinar/regi…
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