{"id":"W4406646264","doi":"10.1038/s43856-024-00712-7","title":"Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease","year":2025,"lang":"en","type":"article","venue":"Communications Medicine","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Stichting tot Verbetering van het Lot der Blinden; Stichting Blindenhulp; Landelijke Stichting voor Blinden en Slechtzienden; Stichting Blinden-Penning; Stichting voor Ooglijders; Stichting Steunfonds Uitzicht; Radboud Universitair Medisch Centrum; Oogfonds; Algemene Nederlandse Vereniging ter voorkoming van Blindheid; Retina UK; Foundation Fighting Blindness","keywords":"Stargardt disease; ABCA4; Exon; Biology; RNA splicing; In vivo; Molecular biology; Exon skipping; Intron; Alternative splicing; Cell biology; Cancer research; RNA; Genetics; Gene; Phenotype","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":[],"consensus_categories":[],"category_scores_codex":[0.0004366275,0.00007467797,0.0001373527,0.00007864024,0.00005802921,0.000003430933,0.0003251805,0.00004999392,0.000009554796],"category_scores_gemma":[0.0002949933,0.00006433307,0.00003921933,0.0001345646,0.0001229763,0.000002929729,0.0001081354,0.00005978821,2.099516e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001604337,"about_ca_system_score_gemma":0.0001745852,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002177208,"about_ca_topic_score_gemma":0.00004287291,"domain_scores_codex":[0.9992729,0.00008014194,0.000336638,0.0001483067,0.00007276002,0.00008920796],"domain_scores_gemma":[0.9989026,0.0001131799,0.00008537649,0.0007568488,0.0001077617,0.00003424164],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001348027,0.001795423,0.6207165,0.0003094974,0.0003321206,0.000001111423,0.0005607381,0.001060997,0.1947622,0.05460194,0.01040909,0.1141024],"study_design_scores_gemma":[0.003665584,0.000282896,0.9286683,0.0002604638,0.00003647869,2.854473e-7,0.0001835728,0.01672693,0.0007805091,0.005235843,0.04401074,0.0001483989],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8184553,0.01361035,0.116,0.02749843,0.000304082,0.002354998,0.00002607551,0.00002638817,0.02172437],"genre_scores_gemma":[0.988721,0.00382673,0.006184312,0.0003291414,0.00002227598,0.0001190518,0.0004620987,0.000006322722,0.0003290941],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3079519,"threshold_uncertainty_score":0.2623426,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04027591415361016,"score_gpt":0.4047414174594471,"score_spread":0.3644655033058369,"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."}}