{"id":"W1968809228","doi":"10.1038/jid.2011.20","title":"A Large Mutational Study in Pachyonychia Congenita","year":2011,"lang":"en","type":"article","venue":"Journal of Investigative Dermatology","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Saskatchewan","funders":"DNA Genotek; University of Utah","keywords":"Frameshift mutation; Genetics; Missense mutation; Nonsense mutation; Biology; Mutation; Genodermatosis; Gene; Molecular biology","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":[0.0002543161,0.0007753433,0.0005183675,0.002966993,0.001349281,0.0005460914,0.0003919728,0.0006385709,0.00316068],"category_scores_gemma":[0.00139942,0.0002722167,0.0004218131,0.001203607,0.0006530449,0.0002689299,0.0006842542,0.0004280175,0.0004348928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003070277,"about_ca_system_score_gemma":0.0002818889,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003350919,"about_ca_topic_score_gemma":0.003066883,"domain_scores_codex":[0.9995803,0.00008113968,0.00005068365,0.0001386701,0.00009338389,0.00005581793],"domain_scores_gemma":[0.9992873,0.0003378089,0.0001038356,0.00007206963,0.00007154985,0.0001273645],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003697547,0.00114376,0.4612445,0.0002689711,0.0005072997,0.1198537,0.003367563,0.0007648343,0.3760758,0.0007208583,0.001067669,0.0312874],"study_design_scores_gemma":[0.000125709,0.0006717075,0.8795074,0.00004186739,0.0005157117,0.1049613,0.0007879376,0.0006423953,0.009915209,0.0001621953,0.002631945,0.00003653097],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988285,0.0001705512,0.0001931884,0.00002914384,0.000003469209,0.00002525354,0.0002138413,0.00001113133,0.0005249687],"genre_scores_gemma":[0.9991684,0.0001465994,0.0001938708,0.00002062919,0.00001009633,0.00001509932,0.0001947838,0.00001203207,0.0002384459],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003350919,"threshold_uncertainty_score":0.01057357,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04220531482088796,"score_gpt":0.3007699252440006,"score_spread":0.2585646104231127,"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."}}