{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02361328,0.0008386712,0.0009379484,0.001934075,0.00964292,0.004216585,0.002734164,0.001968255,0.007407072],"category_scores_gemma":[0.04401123,0.0008305095,0.0008030353,0.003412878,0.001814653,0.001247869,0.006811647,0.001692908,0.003077843],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.02247444,"about_ca_system_score_gemma":0.05790575,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5850408,"about_ca_topic_score_gemma":0.6727011,"domain_scores_codex":[0.9799609,0.004939564,0.0009861487,0.002695563,0.007112809,0.004305004],"domain_scores_gemma":[0.95065,0.006858142,0.003329227,0.004040936,0.01445826,0.02066343],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003689677,0.00287638,0.5317028,0.0004304162,0.0006121427,0.01829872,0.02279081,0.001931943,0.004383581,0.002271412,0.1608341,0.2501781],"study_design_scores_gemma":[0.0007180114,0.003183266,0.61455,0.0006694524,0.0002885616,0.01570707,0.03816281,0.00535496,0.004925828,0.002516166,0.3133415,0.000582434],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9131415,0.004101539,0.004911247,0.01933132,0.001189784,0.002232299,0.007286974,0.001142133,0.04666325],"genre_scores_gemma":[0.9304183,0.002728923,0.0105088,0.01165191,0.0003938643,0.0005742275,0.008421049,0.0009346969,0.03436833],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4149592,"threshold_uncertainty_score":0.834806,"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."}}