{"id":"W3016509977","doi":"10.1186/s13023-020-01352-5","title":"Detection of alpha-1 antitrypsin deficiency: the past, present and future","year":2020,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Protease and Inhibitor Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"Alpha-1 Foundation; Ironwood Pharmaceuticals, Incorporated; National Institutes of Health; Grifols; CSL Behring; Shire Canada; AstraZeneca","keywords":"Alpha 1-antitrypsin deficiency; Medicine; Intensive care medicine; Disease; Pulmonary disease; Human genetics; Pathology; Immunology; Internal medicine; Biology; Genetics","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":[0.001460279,0.0008831751,0.001640147,0.002793031,0.0002740431,0.001167648,0.0009856082,0.001812683,0.002014191],"category_scores_gemma":[0.001790297,0.0003215398,0.0005985778,0.001868515,0.0007541181,0.001768115,0.0005798866,0.002297288,0.001333992],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007658321,"about_ca_system_score_gemma":0.001291326,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001308187,"about_ca_topic_score_gemma":0.001762732,"domain_scores_codex":[0.9995894,0.0000821155,0.00007108301,0.00007416806,0.0001478951,0.00003529572],"domain_scores_gemma":[0.9988152,0.0006326549,0.0001517299,0.00002201309,0.0002877713,0.00009072017],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001203006,0.00004290716,0.0004259195,0.01168598,0.00009207976,0.0003125075,0.00005854202,0.0001592635,0.0007232461,0.002562888,0.02734566,0.9564707],"study_design_scores_gemma":[0.00004249689,0.000186779,0.00194533,0.009555268,0.0002645511,0.004492652,0.0001401092,0.0001621434,0.0004832894,0.003160607,0.9795314,0.00003537451],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00006357906,0.9987285,0.00005986026,0.0005533847,0.0002164195,0.000001921068,0.000007362457,0.000003973938,0.0003650775],"genre_scores_gemma":[0.0005257207,0.9985256,0.0001335339,0.0003032603,0.0002677654,0.00000341457,0.00001378423,9.434564e-7,0.0002259693],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002793031,"threshold_uncertainty_score":0.007722795,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01173807748452725,"score_gpt":0.2606823431517274,"score_spread":0.2489442656672002,"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."}}