{"id":"W4252183206","doi":"10.22541/au.163389956.69631312/v1","title":"PhenomeCentral: 7 years of rare disease matchmaking","year":2021,"lang":"en","type":"preprint","venue":"","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Sunnybrook Health Science Centre; University Health Network; Health Sciences Centre; Children's Hospital of Eastern Ontario","funders":"","keywords":"Computer science; Phenotype; Data sharing; Process (computing); Computational biology; Data science; Gene; Biology; Genetics; Medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.06729359,0.001991837,0.002671617,0.009456341,0.003613226,0.01391873,0.006460627,0.004207727,0.01896909],"category_scores_gemma":[0.1237596,0.002698842,0.002683441,0.01039825,0.003053775,0.02008355,0.02277605,0.00850901,0.0153523],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002973548,"about_ca_system_score_gemma":0.007758403,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00589046,"about_ca_topic_score_gemma":0.007614858,"domain_scores_codex":[0.9625981,0.01161883,0.004384681,0.007971493,0.01161922,0.001807664],"domain_scores_gemma":[0.9010066,0.03195209,0.003778213,0.03732922,0.01159776,0.01433606],"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":[0.002833843,0.0003925899,0.01799784,0.001147638,0.0006219555,0.001680395,0.003433944,0.004904118,0.005285523,0.04763378,0.5731153,0.340953],"study_design_scores_gemma":[0.0002619553,0.0002199278,0.007114211,0.0006361199,0.0001209242,0.001123857,0.0007259727,0.005736885,0.004628413,0.0406032,0.9386185,0.0002100679],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"software","genre_scores_codex":[0.07269826,0.02744722,0.3546427,0.1009923,0.01847705,0.002354564,0.2296769,0.120461,0.07324991],"genre_scores_gemma":[0.1079284,0.009965721,0.4148699,0.0178814,0.003950522,0.001623109,0.3906487,0.02931051,0.02382182],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.06729359,"threshold_uncertainty_score":0.3558868,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009690987440882311,"score_gpt":0.2406737939932684,"score_spread":0.230982806552386,"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."}}