{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001136838,0.0002606924,0.0006499033,0.0004663054,0.0001016836,0.0000160629,0.0003895751,0.0001363158,0.0008921254],"category_scores_gemma":[0.000282553,0.0001790828,0.00007026999,0.0008546328,0.000396898,0.00009455052,0.00008614003,0.0006890038,0.0006716312],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005628584,"about_ca_system_score_gemma":0.001099291,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0140289,"about_ca_topic_score_gemma":0.008980865,"domain_scores_codex":[0.997107,0.0003312448,0.0004364605,0.0004853696,0.0007372101,0.0009026781],"domain_scores_gemma":[0.9978837,0.0001514444,0.0000984942,0.001125457,0.0001374215,0.0006035282],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001589174,0.00004519564,0.9757241,0.0003088032,0.00005031754,0.0003166255,0.0009514798,0.000007583476,0.002976845,0.0002323372,0.01629652,0.002931252],"study_design_scores_gemma":[0.004708646,0.0002878119,0.9566249,0.0004705665,0.00004509794,0.00002173024,0.0003548418,0.000348503,0.00006148683,0.000665282,0.03624279,0.00016837],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9746574,0.004578224,0.000004723645,0.006854499,0.0002349583,0.001314573,0.00005018873,0.00005710114,0.01224838],"genre_scores_gemma":[0.9850675,0.00006906611,0.00004034239,0.01268203,0.001207622,0.00009329,0.00004226845,0.00004581386,0.000752014],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01994627,"threshold_uncertainty_score":0.9925368,"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."}}