{"id":"W4378974775","doi":"10.1186/s13023-023-02707-4","title":"Meeting abstracts from the 11th edition of the European conference on Rare Diseases & Orphan Products (ECRD) 2022","year":2023,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"European Rare Kidney Disease Reference Network; Universitätsklinikum Heidelberg; Région Normandie; Medizinische Universität Graz; Karl-Franzens-Universität Graz; GIS-Institut des Maladies Rares; Radboud Universiteit; Leids Universitair Medisch Centrum; Radboud Universitair Medisch Centrum; Trinity College Dublin; CERN; Helsingin Yliopisto; European Commission; Inselspital, Universitätsspital Bern; F. Hoffmann-La Roche; European Organisation for Rare Diseases; Ospedale Pediatrico Bambino Gesù; Albert-Ludwigs-Universität Freiburg; European Federation of Pharmaceutical Industries and Associations; University of Bern; PTC Therapeutics; KU Leuven; Alexion Pharmaceuticals; Hospital for Sick Children; Pfizer","keywords":"Orphan drug; Human genetics; Medicine; Bioinformatics; Genetics; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.003413736,0.001315457,0.001479745,0.003241643,0.0005656117,0.004038037,0.001558216,0.002496058,0.4468564],"category_scores_gemma":[0.008120256,0.0003695909,0.0008652082,0.002291324,0.0005005794,0.001836871,0.002518693,0.00212868,0.262892],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001140559,"about_ca_system_score_gemma":0.002556795,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002309749,"about_ca_topic_score_gemma":0.002777452,"domain_scores_codex":[0.9978011,0.0004643324,0.0003614287,0.0002488743,0.0009242762,0.0001999701],"domain_scores_gemma":[0.9952879,0.00109442,0.0004981372,0.0003490057,0.001967188,0.0008033851],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007046283,0.00002742921,0.0001399857,0.0003800748,0.000008604849,0.00006279963,0.00001565704,0.00006589408,0.0002825284,0.0005759993,0.9082023,0.09016821],"study_design_scores_gemma":[0.00001164666,0.00001393821,0.0003759286,0.000392117,0.000004685626,0.00009749135,0.00001435666,0.00004874658,0.00008620902,0.0003135238,0.9986357,0.000005561672],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"other","genre_gemma":"other","genre_scores_codex":[0.002176292,0.07373768,0.01418812,0.03332575,0.1375676,0.001631727,0.02751635,0.001877843,0.7079785],"genre_scores_gemma":[0.00620162,0.04926821,0.006392774,0.008997654,0.02610682,0.001383704,0.02534232,0.0009279734,0.875379],"genre_candidate":"other","genre_consensus":"other","teacher_disagreement_score":0.4468564,"threshold_uncertainty_score":0.7889922,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01619357744338483,"score_gpt":0.2383988720521392,"score_spread":0.2222052946087544,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}