{"id":"W2070809717","doi":"10.1016/j.ajhg.2014.05.003","title":"FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project","year":2014,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":250,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Centre hospitalier universitaire de Québec; Canada's Michael Smith Genome Sciences Centre; University of British Columbia; SickKids Foundation; University of Toronto; Memorial University of Newfoundland; Hospital for Sick Children; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; McGill University and Génome Québec Innovation Centre; University of Calgary; University of Ottawa; McGill University; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research","keywords":"Forge; Rare disease; Disease; Medicine; Engineering; 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":[0.0158907,0.001145978,0.001311489,0.002595521,0.009554506,0.008217271,0.003118862,0.003006713,0.004312107],"category_scores_gemma":[0.01680395,0.0006619469,0.0009403697,0.005257383,0.002404669,0.001385811,0.00811241,0.003013786,0.002618057],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.04127293,"about_ca_system_score_gemma":0.2009085,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9123496,"about_ca_topic_score_gemma":0.9384275,"domain_scores_codex":[0.9890454,0.001419915,0.0002970486,0.0008478712,0.006247037,0.002142805],"domain_scores_gemma":[0.9457015,0.001744369,0.0016413,0.002529718,0.02068965,0.0276934],"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":[0.002271529,0.001375278,0.1590298,0.0002775495,0.0004588413,0.001986719,0.001679314,0.000996099,0.001132175,0.005023899,0.7329629,0.09280588],"study_design_scores_gemma":[0.002229451,0.001035439,0.4766262,0.0007013197,0.0005386769,0.002091985,0.004078252,0.002074498,0.00159541,0.002793742,0.5057498,0.0004852426],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.288528,0.01231928,0.007685513,0.1784233,0.004119143,0.005308509,0.4018344,0.002915691,0.0988662],"genre_scores_gemma":[0.3850028,0.01409059,0.02839788,0.04771064,0.001230112,0.003600319,0.4480252,0.002047569,0.06989508],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.08765036,"threshold_uncertainty_score":0.2994576,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009665841036365643,"score_gpt":0.258607455979492,"score_spread":0.2489416149431263,"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."}}