{"id":"W2086010650","doi":"10.1097/gim.0b013e3181770172","title":"Is gene discovery research or diagnosis?","year":2008,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"Memorial University of Newfoundland; Nova Scotia Health Authority; Izaak Walton Killam Health Centre; Dalhousie University; Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"St. Jude Medical; Dalhousie University; Genome Atlantic; Nova Scotia Health Research Foundation; Children's Hospital Foundation; Genome Canada","keywords":"Realm; Disease; Data science; Medicine; Psychology; Computer science; Political science; Pathology","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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.04540038,0.00128124,0.005359573,0.006380432,0.002724569,0.00782022,0.004554451,0.01157911,0.01306582],"category_scores_gemma":[0.1090506,0.0009347369,0.00167315,0.004487752,0.03388338,0.02485656,0.003992887,0.0104428,0.004835269],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004655128,"about_ca_system_score_gemma":0.01023714,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005005739,"about_ca_topic_score_gemma":0.001938469,"domain_scores_codex":[0.9816127,0.008944063,0.002304339,0.001948097,0.003982872,0.001207923],"domain_scores_gemma":[0.8664439,0.1043177,0.006041822,0.006398856,0.01184581,0.004951899],"domain_codex":null,"domain_gemma":"methods","domain_candidate":"methods","domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.001004068,0.0003349877,0.009430304,0.004638598,0.0004647319,0.002117466,0.0009979735,0.0003291259,0.001109816,0.4549288,0.2244468,0.3001973],"study_design_scores_gemma":[0.0002683144,0.0001972806,0.002194372,0.00280401,0.0003525614,0.003682916,0.001903615,0.0006164316,0.0006803593,0.8189638,0.1682009,0.0001353953],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.00240528,0.1349492,0.01096066,0.8272266,0.01549554,0.00003539523,0.0003620675,0.0002160866,0.008349271],"genre_scores_gemma":[0.1675167,0.3057466,0.02395744,0.3866799,0.1055888,0.0002342629,0.000643737,0.0002970863,0.009335432],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.9545996,"threshold_uncertainty_score":0.240103,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1059099932402849,"score_gpt":0.3872088035096318,"score_spread":0.2812988102693469,"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."}}