{"id":"W2969318835","doi":"10.1101/740837","title":"Massive parallel variant characterization identifies <i>NUDT15</i> alleles associated with thiopurine toxicity","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Acute Lymphoblastic Leukemia research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Institute for Advanced Research","funders":"Cancer Science Institute of Singapore, National University of Singapore; School of Medicine, University of Alabama at Birmingham; National Institutes of Health; Chinese University of Hong Kong; Postgraduate Institute of Medical Education and Research, Chandigarh; National University of Singapore; National Taiwan University Hospital; Lunds Universitet; University of Exeter; University of Washington; Stockholms Universitet; Cancerfonden; National Center for Child Health and Development; Vetenskapsrådet; V Foundation for Cancer Research; St. Jude Children's Research Hospital; Canadian Institute for Advanced Research; National Taiwan University; American Lebanese Syrian Associated Charities; Alex's Lemonade Stand Foundation for Childhood Cancer","keywords":"Thiopurine methyltransferase; Toxicity; Allele; Biology; Pharmacogenetics; Genetics; Loss function; Gene; Computational biology; Phenotype; Genotype; Medicine; Disease; Internal medicine","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":[0.0008067956,0.0005646669,0.0004996365,0.0006706873,0.0002334882,0.0006864298,0.0003582151,0.0003876438,0.001142469],"category_scores_gemma":[0.001067599,0.0002356767,0.0006112491,0.0004203506,0.0002688322,0.0001732077,0.0004655085,0.0007111538,0.0003372234],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003263767,"about_ca_system_score_gemma":0.0002702206,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001722114,"about_ca_topic_score_gemma":0.002220832,"domain_scores_codex":[0.9995922,0.00007007941,0.0000391304,0.0001474773,0.0001118596,0.00003928093],"domain_scores_gemma":[0.9995707,0.0001026463,0.0001290645,0.00009446106,0.00005720334,0.00004594668],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001292676,0.0002643784,0.1706409,0.0002618759,0.0005803923,0.001085174,0.0002296874,0.01430365,0.7366154,0.001111824,0.002589937,0.07102417],"study_design_scores_gemma":[0.0002393444,0.0008421517,0.4072604,0.00007886856,0.000531488,0.00630627,0.0001632107,0.1832632,0.3857568,0.00394626,0.01149308,0.0001189748],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9673805,0.00060764,0.02754727,0.0002455644,0.00004009831,0.00007752885,0.002399892,0.000859282,0.0008421895],"genre_scores_gemma":[0.9704627,0.0002188193,0.0258497,0.0001819515,0.00002093054,0.00004151284,0.002572867,0.000108035,0.0005433332],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001722114,"threshold_uncertainty_score":0.004266798,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01281492066983825,"score_gpt":0.2278354324715919,"score_spread":0.2150205118017536,"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."}}