{"id":"W3097391381","doi":"10.15326/jcopdf.8.1.2020.0168","title":"The Clinical Utility of Determining the Allelic Background of Mutations Causing Alpha-1 Antitrypsin Deficiency: The Case with the Null Variant Q0(Mattawa)/Q0(Ourém)","year":2020,"lang":"en","type":"article","venue":"Chronic Obstructive Pulmonary Diseases Journal of the COPD Foundation","topic":"Protease and Inhibitor Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Institut universitaire de cardiologie et de pneumologie de Québec","funders":"Institut universitaire de cardiologie et de pneumologie de Québec, Université Laval; Grifols; Fundació Institut de Recerca Hospital Universitari Vall d’Hebron; Canadian Institutes of Health Research; Université Laval","keywords":"Null (SQL); Allele; Null allele; Alpha (finance); Alpha 1-antitrypsin deficiency; Genetics; Biology; Psychology; Gene; Immunology; Developmental psychology; Computer science; Data mining","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000712618,0.0001798675,0.0002169141,0.00001614053,0.0008582115,0.00007327341,0.0005882769,0.00006992394,0.0000210167],"category_scores_gemma":[0.0003638916,0.00007438394,0.0002993294,0.0002046638,0.0009625753,0.00004496723,0.0002122154,0.0003059511,0.000001073147],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006163152,"about_ca_system_score_gemma":0.000873461,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001876382,"about_ca_topic_score_gemma":0.00003396348,"domain_scores_codex":[0.9979167,0.0006769087,0.0006458623,0.0002216397,0.0003324003,0.0002065052],"domain_scores_gemma":[0.9975016,0.0003324938,0.001124808,0.0005094621,0.0004526098,0.00007899434],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.01532927,0.005899837,0.07967293,0.001883491,0.008303519,0.001925877,0.008935119,0.01689266,0.4245655,0.01818599,0.009757559,0.4086483],"study_design_scores_gemma":[0.01136682,0.008616346,0.6386975,0.001266048,0.00833557,0.01556767,0.04654692,0.067605,0.1503491,0.02044881,0.02892397,0.002276271],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9894012,0.003561669,0.003839684,0.002176412,0.0003897481,0.0004808096,0.00005073913,0.000003350015,0.00009643412],"genre_scores_gemma":[0.9990498,0.0001613293,0.00009533974,0.0001863289,0.0004520394,0.00001033641,0.00001570018,0.00001745534,0.00001167351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5590246,"threshold_uncertainty_score":0.6600756,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02747556578413586,"score_gpt":0.2918111731286357,"score_spread":0.2643356073444998,"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."}}