{"id":"W4292220071","doi":"10.1101/2022.08.17.503990","title":"Single molecule long-read real-time amplicon-based sequencing of <i>CYP2D6</i> : a proof-of-concept with hybrid haplotypes","year":2022,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Pharmacogenetics and Drug Metabolism","field":"Pharmacology, Toxicology and Pharmaceutics","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"NOSM University; University of Calgary; Women and Children’s Health Research Institute; University of Alberta","funders":"Faculty of Medicine and Dentistry, University of Alberta; Medical Research Council; Directorate for Biological Sciences; Alberta Innovates; European Commission; National Institute for Health and Care Research; U.S. Food and Drug Administration; University of Alberta; Department of Health and Social Care; GlaxoSmithKline","keywords":"Haplotype; Pseudogene; Genetics; Biology; Amplicon; Gene; Computational biology; Hypervariable region; Locus (genetics); Genome; Allele; Polymerase chain reaction","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":[0.002025354,0.0005710018,0.0005282447,0.0003098209,0.0002587467,0.0006045221,0.0006814036,0.0009641938,0.001705948],"category_scores_gemma":[0.001294277,0.000340528,0.00058556,0.0002591785,0.0004309228,0.0004623501,0.000678101,0.001375004,0.001335814],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002592017,"about_ca_system_score_gemma":0.0004658015,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003504256,"about_ca_topic_score_gemma":0.0005404142,"domain_scores_codex":[0.9987867,0.0002899927,0.00007073802,0.0003815201,0.0003472517,0.0001238138],"domain_scores_gemma":[0.9993978,0.0001530517,0.0001249369,0.00007885833,0.0001687816,0.00007650044],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002218652,0.0001540864,0.0008589551,0.000284836,0.00005984608,0.0002911192,0.0001424122,0.001832409,0.9685866,0.001541671,0.002135869,0.02389022],"study_design_scores_gemma":[0.0001257852,0.001265788,0.001924631,0.00003837681,0.0000821296,0.0007894941,0.00007998612,0.01962113,0.9485372,0.001116048,0.02632857,0.00009098819],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.3017451,0.002520359,0.6771268,0.001521278,0.0007769858,0.001341215,0.0043711,0.003685767,0.006911344],"genre_scores_gemma":[0.5170299,0.001322364,0.4655807,0.00104009,0.0001275863,0.001103015,0.00653048,0.0004935733,0.006772177],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.002025354,"threshold_uncertainty_score":0.01071119,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04844588572887674,"score_gpt":0.311279333558613,"score_spread":0.2628334478297363,"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."}}