{"id":"W4200098900","doi":"10.1016/j.gim.2021.08.014","title":"Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Toronto; Newborn Screening Ontario; University Health Network; University of Calgary; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Genome Alberta; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Ontario Research Foundation; Ontario Genomics Institute","keywords":"Multidisciplinary approach; Inheritance (genetic algorithm); Gene; Disease; Phenotype; Exome sequencing; Exome; Candidate gene; Causality (physics); Computational biology; Genetics; Medicine; Biology; Political science; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001039033,0.0001432051,0.0002312892,0.00001185926,0.00005676534,0.000008598276,0.0003159776,0.00004991585,0.0000409807],"category_scores_gemma":[0.0001751225,0.00008439993,0.00007895884,0.00010709,0.0002337683,0.000003188253,0.0001719218,0.0000532583,1.009034e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001888863,"about_ca_system_score_gemma":0.0003639481,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.009803423,"about_ca_topic_score_gemma":0.0433323,"domain_scores_codex":[0.9989113,0.00004851604,0.0003527651,0.0002552955,0.0002322429,0.0001999458],"domain_scores_gemma":[0.9989814,0.00005368335,0.0001222354,0.0006426668,0.0001420386,0.00005802678],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001139457,0.0004487628,0.6165187,0.002191994,0.000510395,0.0002298207,0.01329074,0.004109407,0.310528,0.001523223,0.04777686,0.001732617],"study_design_scores_gemma":[0.004318336,0.0004266155,0.4450869,0.0003279496,0.0003921227,0.00002933264,0.0438366,0.0001939988,0.3461327,0.001859435,0.1566132,0.0007828351],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.978192,0.01894151,0.000315152,0.001344045,0.0003237678,0.0002997243,0.0004899917,0.000001327512,0.00009243294],"genre_scores_gemma":[0.9964125,0.001442229,0.0002125125,0.001002782,0.0002289631,0.00005813621,0.0002187275,0.00001969446,0.0004044351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1714319,"threshold_uncertainty_score":0.9967904,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0209714120815034,"score_gpt":0.2896678702963372,"score_spread":0.2686964582148338,"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."}}