{"id":"W2908677338","doi":"10.1093/bioinformatics/btz012","title":"A web application and service for imputing and visualizing missense variant effect maps","year":2019,"lang":"en","type":"article","venue":"Bioinformatics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Institute for Advanced Research; Sinai Health System; Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"National Human Genome Research Institute; Canadian Institutes of Health Research; National Institutes of Health; Canada Research Chairs","keywords":"Missense mutation; Imputation (statistics); Computer science; Pipeline (software); Software; Source code; Data mining; Web service; Missing data; Open source; Exome; Computational biology; Biology; Mutation; World Wide Web; Genetics; Machine learning; Exome sequencing; Gene; Programming language","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":[0.00301506,0.002903854,0.001944141,0.004386127,0.001289036,0.002554313,0.003703993,0.002562178,0.1523876],"category_scores_gemma":[0.01094425,0.001864464,0.002830587,0.003835266,0.0006532628,0.002305085,0.005247715,0.003517704,0.08382917],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008080593,"about_ca_system_score_gemma":0.002183025,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006073696,"about_ca_topic_score_gemma":0.008076644,"domain_scores_codex":[0.9988437,0.0001977116,0.0001319704,0.0002786777,0.0004363874,0.0001116213],"domain_scores_gemma":[0.9961722,0.001954657,0.0002844794,0.0006721536,0.0005455744,0.0003708376],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001197498,0.0002792452,0.005644651,0.001412938,0.0007405625,0.000996821,0.0003202739,0.003960922,0.007418091,0.004047229,0.8621089,0.111873],"study_design_scores_gemma":[0.002906192,0.000240424,0.01987188,0.0007619956,0.0005244591,0.002609771,0.0002726006,0.1172681,0.0301626,0.06375398,0.7608792,0.0007488649],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"software","genre_gemma":"software","genre_scores_codex":[0.002087147,0.0003744891,0.1885994,0.0005632587,0.0002960179,0.0003320136,0.1206492,0.6832349,0.003863678],"genre_scores_gemma":[0.03566172,0.001008178,0.420289,0.002074992,0.0003893021,0.003057186,0.3467014,0.175331,0.01548727],"genre_candidate":"software","genre_consensus":"software","teacher_disagreement_score":0.1523876,"threshold_uncertainty_score":0.5097872,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004101546701540773,"score_gpt":0.2333109660772478,"score_spread":0.229209419375707,"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."}}