{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.007856748,0.002149541,0.002601861,0.008213391,0.002235604,0.01626194,0.006803104,0.005536538,0.05943108],"category_scores_gemma":[0.02661834,0.002385564,0.002517291,0.008953457,0.00113345,0.02279874,0.006976519,0.004621147,0.06607026],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002976269,"about_ca_system_score_gemma":0.006125164,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02589541,"about_ca_topic_score_gemma":0.01770752,"domain_scores_codex":[0.995653,0.0008955506,0.0009077474,0.0007230557,0.001456416,0.000364078],"domain_scores_gemma":[0.983685,0.00451133,0.0006819669,0.005204559,0.00383707,0.002079997],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002343486,0.0001289079,0.001213907,0.001678299,0.0001393549,0.0003182412,0.0004810021,0.001315089,0.001649617,0.01723402,0.7977677,0.1778395],"study_design_scores_gemma":[0.00009787441,0.00002796721,0.0008139118,0.0008223887,0.00006756957,0.000269202,0.0002546188,0.002065384,0.001483168,0.01991907,0.9740874,0.00009149411],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"review","genre_scores_codex":[0.005781018,0.01357901,0.2681555,0.03896571,0.002872097,0.001324777,0.377542,0.179292,0.1124878],"genre_scores_gemma":[0.01699472,0.009514482,0.3057095,0.01209478,0.0007649155,0.001061986,0.605663,0.01971116,0.0284855],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.05943108,"threshold_uncertainty_score":0.1988168,"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."}}