{"id":"W3082311577","doi":"10.7554/elife.58026","title":"Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact","year":2020,"lang":"en","type":"article","venue":"eLife","topic":"Pharmacogenetics and Drug Metabolism","field":"Pharmacology, Toxicology and Pharmaceutics","cited_by":103,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sinai Health System; Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"National Institute of General Medical Sciences; National Human Genome Research Institute; Canadian Institutes of Health Research; Canada Excellence Research Chairs, Government of Canada; Chan Zuckerberg Initiative; National Institutes of Health; National Science Foundation","keywords":"Vitamin K epoxide reductase; Biology; Transmembrane domain; Missense mutation; Genetics; Gene; Mutation","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":[0.0003436746,0.0002522581,0.0002357615,0.0004588722,0.0001594968,0.0004609296,0.0001592432,0.0004249737,0.001031864],"category_scores_gemma":[0.0006085122,0.0001226727,0.0001401061,0.0004027286,0.0002364724,0.0001468196,0.0002214252,0.0003900078,0.0003257105],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002075852,"about_ca_system_score_gemma":0.00009117219,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000682511,"about_ca_topic_score_gemma":0.001408822,"domain_scores_codex":[0.9995207,0.00005556477,0.00003096577,0.0002051855,0.0001370567,0.00005060809],"domain_scores_gemma":[0.9997446,0.00007505598,0.00009361754,0.00002981279,0.00003193736,0.00002487208],"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":[0.0003725047,0.00005244323,0.02741884,0.00004474308,0.00008138407,0.0001102929,0.00007467974,0.0004425904,0.9553107,0.0002525757,0.0002203496,0.01561891],"study_design_scores_gemma":[0.00001984458,0.0003574532,0.1678279,0.00001397445,0.0001168352,0.001258532,0.0001057689,0.005224727,0.8214141,0.0004779001,0.003159381,0.00002361401],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.984435,0.00095962,0.01118637,0.0000809635,0.00001888486,0.00001566035,0.002142456,0.0001427778,0.001018334],"genre_scores_gemma":[0.9880344,0.0004334653,0.008748954,0.00007265063,0.000008243946,0.00001997612,0.001291671,0.00002578484,0.001364789],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001031864,"threshold_uncertainty_score":0.003451943,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1530283749634961,"score_gpt":0.437107931851903,"score_spread":0.2840795568884069,"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."}}