{"id":"W2883897094","doi":"10.1016/j.omtn.2018.07.010","title":"Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models","year":2018,"lang":"en","type":"article","venue":"Molecular Therapy — Nucleic Acids","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":166,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Foundation Fighting Blindness; Fight for Sight UK; ProQR Therapeutics; Retina UK; Moorfields Eye Charity; Wellcome Trust","keywords":"Exon; Biology; Mutation; Messenger RNA; Molecular biology; Retinal; Wild type; Cell biology; RNA splicing; Genetics; RNA; Mutant; Gene; Biochemistry","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002905752,0.0003307598,0.0002440228,0.0001387792,0.0002292863,0.00006022294,0.0002553038,0.0002519669,0.00005184394],"category_scores_gemma":[0.0000257183,0.0003317039,0.0001022366,0.0002035855,0.0002279755,0.00002395311,0.0001471296,0.0001553502,0.00001645577],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002795867,"about_ca_system_score_gemma":0.0000442209,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009898055,"about_ca_topic_score_gemma":0.00008463136,"domain_scores_codex":[0.998179,0.0001065098,0.0003569158,0.0006599601,0.0002457283,0.0004518887],"domain_scores_gemma":[0.9991978,0.000007056477,0.0001150113,0.0004658554,0.00009623323,0.0001180564],"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":[0.0003167836,0.00007198309,0.01063914,0.00001368734,0.00007296798,0.000009189534,0.0003110762,0.0001348261,0.9773518,0.0008261825,0.0004081006,0.009844223],"study_design_scores_gemma":[0.007226997,0.00307707,0.1465351,0.0001651006,0.00006232838,0.00004005598,0.0005998353,0.003416829,0.7467617,0.01668183,0.0732544,0.002178747],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9883633,0.001490466,0.003042272,0.0001722322,0.0001367917,0.0003121217,0.000002750938,0.00004395288,0.006436062],"genre_scores_gemma":[0.9964662,0.000510964,0.001430665,0.0009412558,0.000176616,0.0000280019,0.00007471727,0.00007806638,0.0002935803],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2305901,"threshold_uncertainty_score":0.9999135,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01165952593364684,"score_gpt":0.2468154670389673,"score_spread":0.2351559411053205,"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."}}