{"id":"W4283263304","doi":"10.3390/ijms23126868","title":"Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction","year":2022,"lang":"en","type":"article","venue":"International Journal of Molecular Sciences","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Medical Research Council; Fonds Wetenschappelijk Onderzoek; Vlaamse regering; Deutsche Forschungsgemeinschaft","keywords":"Exon; Haplotype; RNA splicing; Genetics; Cone (formal languages); Biology; Medicine; Computational biology; Bioinformatics; Gene; Computer science; Allele; Algorithm","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":[0.0005321698,0.00008666448,0.0000985103,0.0001885966,0.00009152701,0.00003833797,0.0003821469,0.00002908936,0.00002553169],"category_scores_gemma":[0.0001149904,0.00007397519,0.00007195416,0.0002029135,0.00008747532,0.0000173754,0.000112243,0.0001149961,9.118212e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006870326,"about_ca_system_score_gemma":0.0001683989,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003178928,"about_ca_topic_score_gemma":0.00002438067,"domain_scores_codex":[0.9986607,0.00005857249,0.0002502339,0.0001683095,0.0007281129,0.00013406],"domain_scores_gemma":[0.9993879,0.00001227832,0.0002693309,0.00005318582,0.0002416383,0.00003565236],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001322166,0.0007932269,0.6246864,0.000004099985,0.0003211269,0.00006099158,0.0002527541,0.02089174,0.3477722,0.0002663962,0.0003124763,0.003316376],"study_design_scores_gemma":[0.009461664,0.004192462,0.959714,0.0001014762,0.00004743251,0.0001095376,0.0009307226,0.0005600178,0.02073469,0.0003594358,0.003252797,0.0005357468],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966965,0.0001356787,0.002000058,0.0002330648,0.0004164901,0.00007517618,0.000004445718,0.000002687005,0.0004359107],"genre_scores_gemma":[0.9988597,0.00001448574,0.0006940951,0.0003225406,0.00002556236,0.000003892701,0.00002839134,0.000007250714,0.00004405629],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3350276,"threshold_uncertainty_score":0.3016621,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007597292479921685,"score_gpt":0.2296642557712376,"score_spread":0.2220669632913159,"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."}}