{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005766687,0.0005075337,0.0002120003,0.001084379,0.0005007321,0.0005874749,0.0003603457,0.001208394,0.00216511],"category_scores_gemma":[0.003040016,0.0001965196,0.0001650576,0.000261133,0.0009614772,0.0004583389,0.0003058757,0.0007524987,0.0003424697],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001456651,"about_ca_system_score_gemma":0.0001776264,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005404307,"about_ca_topic_score_gemma":0.0004949225,"domain_scores_codex":[0.9996893,0.0000775201,0.00004313717,0.00008680687,0.00004968492,0.00005351123],"domain_scores_gemma":[0.9990608,0.0004781047,0.000160523,0.0000557934,0.00006150352,0.00018328],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0006315078,0.0001316953,0.7686994,0.00005119137,0.00003333508,0.1637602,0.0006735958,0.0001984282,0.05583632,0.0003789871,0.0002963327,0.009308938],"study_design_scores_gemma":[0.00003740762,0.0007143892,0.322193,0.00003149959,0.00008304001,0.6482168,0.0007233926,0.002084232,0.02404879,0.0008216984,0.001010702,0.00003499412],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979376,0.000191027,0.0005882058,0.0001830226,0.00001076303,0.000008109903,0.00002721733,0.00001243154,0.001041754],"genre_scores_gemma":[0.9992741,0.0000619581,0.0004867581,0.00004385684,0.00001801272,0.000002453982,0.00001134814,0.000003045644,0.00009861279],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00216511,"threshold_uncertainty_score":0.007243037,"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."}}