{"id":"W4401307550","doi":"10.48550/arxiv.2408.00659","title":"Refinement of genetic variants needs attention","year":2024,"lang":"en","type":"preprint","venue":"arXiv (Cornell University)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Government of Canada; Université Laval; Grain Farmers of Ontario; Génome Québec; Canadian Field Crop Research Alliance; Genome Canada","keywords":"Computer science; Computational biology; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01045589,0.001132193,0.002121077,0.002399594,0.001192826,0.003035235,0.002201715,0.00186635,0.005145126],"category_scores_gemma":[0.05615706,0.0006055626,0.002140794,0.001979609,0.001326911,0.002557239,0.001898138,0.003892966,0.003609873],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009046769,"about_ca_system_score_gemma":0.002996134,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005318417,"about_ca_topic_score_gemma":0.009076087,"domain_scores_codex":[0.9927768,0.001942115,0.000661462,0.002114707,0.002182895,0.0003220648],"domain_scores_gemma":[0.9701497,0.02049243,0.0008616563,0.004490771,0.003585509,0.0004199978],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002496563,0.00008439737,0.02295389,0.001032269,0.0002637447,0.0009599272,0.0006736621,0.007349692,0.03587019,0.01010451,0.02804879,0.8924093],"study_design_scores_gemma":[0.0002444029,0.0003631871,0.04365404,0.001669016,0.001138575,0.01279639,0.001850615,0.2105057,0.09941422,0.2050069,0.4229008,0.0004561765],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"commentary","genre_scores_codex":[0.05391646,0.01311278,0.8845615,0.01533005,0.001256752,0.0004146245,0.002262373,0.01831079,0.01083471],"genre_scores_gemma":[0.3141162,0.006669516,0.6390877,0.01465277,0.001305282,0.0002568574,0.008057211,0.006463151,0.009391278],"genre_candidate":"commentary","genre_consensus":null,"teacher_disagreement_score":0.01045589,"threshold_uncertainty_score":0.05529672,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02859463473619198,"score_gpt":0.1774035968553488,"score_spread":0.1488089621191568,"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."}}