{"id":"W4383710760","doi":"10.1186/s13059-024-03223-9","title":"Minimum information and guidelines for reporting a multiplexed assay of variant effect","year":2024,"lang":"en","type":"article","venue":"Genome biology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"National Human Genome Research Institute; Canadian Institutes of Health Research; National Institutes of Health; National Institute of General Medical Sciences; Novo Nordisk; University of Toronto; National Heart, Lung, and Blood Institute; Australian Government; “la Caixa” Foundation; Ministerio de Ciencia, Innovación y Universidades; Natural Sciences and Engineering Research Council of Canada; National Institute of Diabetes and Digestive and Kidney Diseases; Johns Hopkins University; Novo Nordisk Fonden; Boettcher Foundation","keywords":"Biology; Genome Biology; Human genetics; Computational biology; Computational genomics; Genetics; Evolutionary biology; Genomics; Data science; Genome; Computer science; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005807856,0.00009105549,0.0001490057,0.00005215156,0.00003197179,0.00001543848,0.00005812509,0.000113293,0.000003621178],"category_scores_gemma":[0.001083629,0.00007007529,0.00008238555,0.00003426022,0.00004093279,0.000003224301,0.00006396618,0.0000225362,0.000001747583],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000452749,"about_ca_system_score_gemma":0.00006379246,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001449877,"about_ca_topic_score_gemma":0.000003307706,"domain_scores_codex":[0.9991351,0.00002933155,0.000510933,0.00017203,0.00002193859,0.0001307013],"domain_scores_gemma":[0.9994531,0.00004100396,0.0002051261,0.0001280109,0.0001363017,0.00003643915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007439691,0.000005808049,0.0005336914,0.0001633643,0.00007832913,0.00000249347,0.00003905133,0.00001741548,0.9835284,0.00022367,0.0004638809,0.01486946],"study_design_scores_gemma":[0.001985357,0.002770877,0.00723465,0.00009594086,0.0002132903,0.0003611937,0.00019262,0.004942245,0.1665012,0.001252251,0.8137571,0.0006933041],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9845273,0.007298753,0.006991483,0.0001963219,0.0003060971,0.0003349483,0.0002152191,0.00001345231,0.0001163825],"genre_scores_gemma":[0.9958909,0.0002241639,0.002768605,0.000128809,0.0001946606,0.0000427801,0.0006859341,0.000008513614,0.00005564366],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8170272,"threshold_uncertainty_score":0.2857587,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02328272814909394,"score_gpt":0.317658679087263,"score_spread":0.294375950938169,"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."}}