{"id":"W4283375432","doi":"10.1016/j.omtn.2022.06.015","title":"Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models","year":2022,"lang":"en","type":"article","venue":"Molecular Therapy — Nucleic Acids","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Nuclear Laboratories","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Exon; Exon skipping; Induced pluripotent stem cell; Biology; Mutation; Frameshift mutation; Hypotonia; Molecular biology; Cell biology; Bioinformatics; Genetics; Cancer research; Medicine; Gene; Alternative splicing; Embryonic stem cell","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001267548,0.0003797587,0.0002606747,0.00009977633,0.0006106836,0.00006129625,0.0003796566,0.0001340673,0.00004000756],"category_scores_gemma":[0.00002921394,0.0004046384,0.0002340848,0.0002328857,0.00007699902,0.00001098074,0.0002249436,0.0001752372,0.000002529291],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003303416,"about_ca_system_score_gemma":0.0001316958,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000196383,"about_ca_topic_score_gemma":0.000003427393,"domain_scores_codex":[0.9977877,0.0001891903,0.0003855432,0.0007860368,0.0003172669,0.0005343171],"domain_scores_gemma":[0.9992082,0.0000153409,0.0001541256,0.000415276,0.0001010718,0.0001059497],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002603028,0.0001398322,0.0002025068,0.00001245395,0.00009301077,0.00005015222,0.0002656149,0.01202091,0.980311,0.0001366519,0.00003036729,0.006477155],"study_design_scores_gemma":[0.002302151,0.001618871,0.0007296138,0.000007981605,0.00003088632,0.0001022256,0.0006880674,0.006936995,0.9768545,0.001516374,0.008341925,0.0008703933],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9618808,0.001003328,0.03555541,0.0002642872,0.0002230224,0.0009057629,0.0000583892,0.00004367895,0.00006533219],"genre_scores_gemma":[0.9879274,0.000171762,0.008533493,0.002777471,0.00001959937,0.000190254,0.0002374398,0.0001270107,0.00001555797],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02702192,"threshold_uncertainty_score":0.9998406,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02424562074810262,"score_gpt":0.2421445870837862,"score_spread":0.2178989663356835,"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."}}