{"id":"W4226097934","doi":"10.1186/s12920-022-01166-3","title":"GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation","year":2022,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto General Hospital; University Health Network; SickKids Foundation; University of Toronto; Hospital for Sick Children; York University; Ted Rogers Centre for Heart Research","funders":"Hospital for Sick Children; Wellcome Trust","keywords":"DECIPHER; Computer science; Bottleneck; Genomics; Computational biology; Data mining; Genome; Information retrieval; Bioinformatics; Genetics; Biology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004277209,0.002056166,0.001034056,0.00289628,0.0005610962,0.003064959,0.002873196,0.001251396,0.01320812],"category_scores_gemma":[0.009768744,0.001225921,0.002163456,0.001454119,0.000726436,0.001648663,0.003941288,0.001630327,0.004137609],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009477938,"about_ca_system_score_gemma":0.001603924,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003686115,"about_ca_topic_score_gemma":0.005664679,"domain_scores_codex":[0.9978591,0.0004359703,0.0002556395,0.0007644333,0.00056592,0.0001190816],"domain_scores_gemma":[0.9948871,0.002924099,0.0004292649,0.0009733136,0.0004966424,0.0002895978],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.006473711,0.0004890973,0.04079421,0.001587902,0.001920604,0.003731719,0.001812414,0.05294235,0.08812865,0.01252149,0.1714459,0.618152],"study_design_scores_gemma":[0.001240486,0.000612377,0.02550304,0.0004304786,0.0007271012,0.004385011,0.0003141859,0.6753712,0.1225305,0.04328462,0.1248643,0.0007368565],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.01676772,0.0003118333,0.6973714,0.0004911472,0.0001652276,0.0005272775,0.006372125,0.2754827,0.002510553],"genre_scores_gemma":[0.1251373,0.0003137722,0.8361251,0.0009336472,0.0001443537,0.0008475706,0.01139564,0.01982296,0.005279765],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01320812,"threshold_uncertainty_score":0.04418558,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007524276825830982,"score_gpt":0.228002766437366,"score_spread":0.220478489611535,"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."}}