{"id":"W4402944539","doi":"10.1101/2024.09.27.24314122","title":"Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; University of Toronto","funders":"Medical Research Council","keywords":"Oligonucleotide; Computational biology; Biology; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.07594357,0.001199329,0.002156506,0.005107559,0.002726563,0.004093696,0.008029552,0.01307945,0.006625014],"category_scores_gemma":[0.1285507,0.001082145,0.005791514,0.002690697,0.002920174,0.002982899,0.005404141,0.01104238,0.006105508],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004472947,"about_ca_system_score_gemma":0.02497587,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01098881,"about_ca_topic_score_gemma":0.01510201,"domain_scores_codex":[0.9308355,0.03260199,0.02031262,0.001897048,0.01226404,0.002088808],"domain_scores_gemma":[0.8491633,0.05786443,0.008354705,0.004130928,0.07571963,0.004767059],"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":[0.0001945322,0.0002574918,0.002407664,0.005713608,0.0001937858,0.001153567,0.002518517,0.00221661,0.001841591,0.03622504,0.6642041,0.2830734],"study_design_scores_gemma":[0.0001763685,0.0001862601,0.002322298,0.02101746,0.000247364,0.001431,0.001061753,0.001583059,0.001158079,0.0338624,0.9367729,0.0001809573],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"methods","genre_scores_codex":[0.00793292,0.0843194,0.2210485,0.5064453,0.02743741,0.01734684,0.009105057,0.00273014,0.1236344],"genre_scores_gemma":[0.0419553,0.0777925,0.6112975,0.1804736,0.006445701,0.0285896,0.01666566,0.0009169312,0.03586318],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.07594357,"threshold_uncertainty_score":0.4016328,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04373895124442535,"score_gpt":0.4311919388222851,"score_spread":0.3874529875778597,"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."}}