{"id":"W2050624542","doi":"10.1016/j.clinbiochem.2012.01.027","title":"Sanger sequencing solved a cryptic case of severe alpha1-antitrypsin deficiency","year":2012,"lang":"en","type":"article","venue":"Clinical Biochemistry","topic":"Protease and Inhibitor Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's & Women's Health Centre of British Columbia; Vancouver General Hospital; St. Paul's Hospital; University of British Columbia","funders":"","keywords":"Sanger sequencing; Proband; Alpha 1-antitrypsin deficiency; Isoelectric focusing; Typing; Genetics; Exon; Biology; Gene; Phenotype; Mutation; Medicine; Immunology; Biochemistry","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003267163,0.001360831,0.0006066707,0.001162046,0.0007186438,0.0008162109,0.0006891319,0.002849566,0.001302146],"category_scores_gemma":[0.003240556,0.0003560367,0.000640508,0.000564739,0.0007937529,0.0003218407,0.0003792468,0.001375354,0.0004979126],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003998976,"about_ca_system_score_gemma":0.000412426,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001114391,"about_ca_topic_score_gemma":0.0009576789,"domain_scores_codex":[0.9995835,0.00006719191,0.00006425754,0.0001215713,0.00008498626,0.00007848169],"domain_scores_gemma":[0.9986017,0.0007599391,0.0001477778,0.0001150019,0.0001599326,0.0002157562],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0008316496,0.0001974889,0.02136648,0.0001955744,0.00007976823,0.8430977,0.001093203,0.0008258484,0.1149298,0.001455146,0.00202112,0.01390616],"study_design_scores_gemma":[0.0001449669,0.000582455,0.03864031,0.0000776105,0.0002807669,0.8743412,0.0005628165,0.004879374,0.06992486,0.001784119,0.00870376,0.00007782492],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9853219,0.001000597,0.005990033,0.002516482,0.0005227645,0.00008660071,0.0007468105,0.0002066873,0.003607991],"genre_scores_gemma":[0.9956885,0.0003217222,0.002357122,0.000312929,0.0001835434,0.000008731414,0.0001773343,0.00003365312,0.0009164107],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002849566,"threshold_uncertainty_score":0.004356146,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03910285481148153,"score_gpt":0.3331953634450344,"score_spread":0.2940925086335529,"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."}}