{"id":"W3020879553","doi":"10.3389/fphar.2020.00486","title":"Long-Distance Phasing of a Tentative “Enhancer” Single-Nucleotide Polymorphism With CYP2D6 Star Allele Definitions","year":2020,"lang":"en","type":"article","venue":"Frontiers in Pharmacology","topic":"Pharmacogenetics and Drug Metabolism","field":"Pharmacology, Toxicology and Pharmaceutics","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute on Drug Abuse; National Institutes of Health","keywords":"Enhancer; Genetics; Single-nucleotide polymorphism; Biology; SNP; Locus (genetics); Haplotype; Allele; Tag SNP; Population; Computational biology; Gene; Genotype; Gene expression; Medicine","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":[0.003277143,0.0007782339,0.001052779,0.001358749,0.0009751971,0.00101793,0.00108101,0.0009352441,0.00659119],"category_scores_gemma":[0.007378234,0.0005033171,0.001582596,0.00151736,0.0005718935,0.000614691,0.001020864,0.001844372,0.002109925],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004205177,"about_ca_system_score_gemma":0.001372758,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001097536,"about_ca_topic_score_gemma":0.003241531,"domain_scores_codex":[0.9985068,0.0004749064,0.0001135707,0.0005383866,0.0002625071,0.0001038655],"domain_scores_gemma":[0.9968547,0.001753607,0.0003831603,0.0004730802,0.0003920484,0.0001434124],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.005445725,0.0008501374,0.1597827,0.002293367,0.001228678,0.004779636,0.001998421,0.07576597,0.3333715,0.03866084,0.01387399,0.3619491],"study_design_scores_gemma":[0.001209482,0.002238651,0.1187911,0.0008843268,0.001844395,0.005542242,0.000786953,0.5174471,0.21134,0.03865772,0.1008318,0.0004263697],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.4537877,0.00136309,0.5286786,0.0003685279,0.0006032379,0.0005377386,0.004907612,0.002085793,0.007667695],"genre_scores_gemma":[0.5783541,0.0003192267,0.409723,0.0004432358,0.0001003854,0.0005796871,0.007735576,0.0006201911,0.002124646],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.00659119,"threshold_uncertainty_score":0.02204978,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1149107687504912,"score_gpt":0.3730680697910477,"score_spread":0.2581573010405565,"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."}}