{"id":"W4212816860","doi":"10.1002/humu.24348","title":"PhenomeCentral: 7 years of rare disease matchmaking","year":2022,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Sunnybrook Health Science Centre; University of Toronto; University Health Network; Ontario Neurotrauma Foundation; Health Sciences Centre; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research","keywords":"Biology; Data sharing; Phenotype; Set (abstract data type); Genotype-phenotype distinction; Data set; Disease; Computational biology; Genomics; Computer science; Genome; Data science; Bioinformatics; Gene; Genetics; Artificial intelligence; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.09592698,0.001926746,0.002644267,0.01087003,0.004144639,0.01595009,0.007351712,0.004420575,0.02324545],"category_scores_gemma":[0.1492517,0.002909852,0.002632414,0.01113633,0.003650131,0.0258225,0.02782082,0.01027302,0.01642215],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003227968,"about_ca_system_score_gemma":0.009378966,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005257505,"about_ca_topic_score_gemma":0.006921695,"domain_scores_codex":[0.9532071,0.0156049,0.00582231,0.008860944,0.014151,0.002353617],"domain_scores_gemma":[0.8584954,0.04421992,0.005836604,0.04562267,0.02083848,0.02498699],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.002036202,0.0003919773,0.01195859,0.0008202289,0.0004237372,0.001266307,0.004344514,0.002850237,0.004092086,0.04550251,0.4768968,0.4494169],"study_design_scores_gemma":[0.0001810233,0.0002261838,0.004854803,0.0006563976,0.00009517587,0.001027496,0.0007443998,0.003768664,0.003433058,0.03227876,0.9525325,0.0002016115],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.04995192,0.02810531,0.484827,0.1485033,0.02395632,0.002535685,0.08040307,0.09924867,0.0824687],"genre_scores_gemma":[0.1019722,0.01316251,0.6141147,0.02916716,0.007350452,0.002003601,0.1608033,0.03456654,0.03685956],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.09592698,"threshold_uncertainty_score":0.5073164,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009900009856947955,"score_gpt":0.2480140772386849,"score_spread":0.238114067381737,"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."}}