{"id":"W2023528112","doi":"10.1002/humu.10200","title":"PAHdb 2003: What a locus-specific knowledgebase can do","year":2003,"lang":"en","type":"review","venue":"Human Mutation","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":158,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Children's & Women's Health Centre of British Columbia; McGill University Health Centre; Montreal Children's Hospital; McGill Genome Centre","funders":"March of Dimes Foundation","keywords":"Biology; Genetics; Phenylalanine hydroxylase; Locus (genetics); Missense mutation; Point mutation; Allele; Gene; Mutant; Mutation; Phenylalanine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002199468,0.0004146861,0.0006210756,0.0001284052,0.0001312368,0.0001847162,0.0002435485,0.0003825539,0.0002968712],"category_scores_gemma":[0.00004401059,0.0003876566,0.0002446708,0.0002717984,0.00008384682,0.000005986364,0.0000479732,0.0001516315,0.000188067],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001416387,"about_ca_system_score_gemma":0.0002508001,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003751001,"about_ca_topic_score_gemma":0.00005027537,"domain_scores_codex":[0.9981469,0.0002674639,0.0004751678,0.0006444139,0.000165759,0.0003002744],"domain_scores_gemma":[0.9988247,0.000008765209,0.0002631552,0.0006068263,0.0001828137,0.0001137952],"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":[0.000002710759,0.00006036331,6.81986e-7,0.001303678,0.0000726019,0.000006713931,0.00007260605,0.000003651202,0.0000287331,0.0003321739,0.01729011,0.980826],"study_design_scores_gemma":[0.0002972391,0.00006215589,0.000002783794,0.0007849054,0.0002034889,0.00001619645,0.0001064259,3.069484e-7,0.0000496406,0.0001384027,0.9979096,0.0004288407],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001488929,0.9959229,0.0003113122,0.000004200529,0.000779859,0.00063044,0.00004369287,0.00001294219,0.002145822],"genre_scores_gemma":[0.00007928017,0.9913564,0.0001461986,0.00005343496,0.0003847214,0.000144877,0.003526848,0.0000779581,0.004230232],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9806195,"threshold_uncertainty_score":0.9998575,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03522547834902569,"score_gpt":0.3255915242177582,"score_spread":0.2903660458687325,"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."}}