{"id":"W2939062452","doi":"10.1016/s2213-2600(19)30056-6","title":"Early-onset emphysema in a large French-Canadian family: a genetic investigation","year":2019,"lang":"en","type":"article","venue":"The Lancet Respiratory Medicine","topic":"Chronic Obstructive Pulmonary Disease (COPD) Research","field":"Medicine","cited_by":29,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Institut Universitaire de Cardiologie et de Pneumologie de Québec; Université Laval","funders":"National Heart, Lung, and Blood Institute; Fonds de Recherche du Québec - Santé; Institut universitaire de cardiologie et de pneumologie de Québec, Université Laval; National Institutes of Health; Boehringer Ingelheim; British Microcirculation Society; Sanofi; Fondation Institut Universitaire de Cardiologie et de Pneumologie de Québec; Canadian Institutes of Health Research; McGill University Health Centre; Novartis; AstraZeneca Canada; GlaxoSmithKline","keywords":"Exome sequencing; Penetrance; Medicine; Heterozygote advantage; Candidate gene; Exome; Gene; Mutation; Genetics; Biology; Genotype; Phenotype","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":[0.0007275979,0.00230927,0.001099817,0.00338349,0.008535611,0.00202902,0.002834871,0.003048696,0.007228752],"category_scores_gemma":[0.003572277,0.0008214332,0.001317976,0.004546219,0.002122161,0.0006674849,0.001426875,0.001636998,0.0004241667],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0103256,"about_ca_system_score_gemma":0.01174733,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.8968901,"about_ca_topic_score_gemma":0.8908442,"domain_scores_codex":[0.9987116,0.000121644,0.00007226742,0.0003755431,0.0003023559,0.000416518],"domain_scores_gemma":[0.9978487,0.0004908539,0.0002614364,0.0001000457,0.0006313758,0.0006674614],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006436066,0.0004009636,0.8881515,0.0001481923,0.0004627588,0.07942008,0.01009745,0.0003354202,0.005473295,0.001565549,0.003648534,0.009652604],"study_design_scores_gemma":[0.00009405037,0.0002082982,0.9217439,0.0003371042,0.0006478635,0.05896117,0.0102019,0.001097793,0.0005067326,0.0004351228,0.005612845,0.0001532478],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922632,0.001396099,0.0004005939,0.001555478,0.00004870969,0.00008201497,0.001335731,0.00001929594,0.002898916],"genre_scores_gemma":[0.9959793,0.001282303,0.0006358593,0.0004404796,0.00005060621,0.00002268185,0.0003140733,0.00001972747,0.00125497],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8968901,"threshold_uncertainty_score":0.2074342,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04177291299166749,"score_gpt":0.3069256835478269,"score_spread":0.2651527705561594,"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."}}