{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001349157,0.0006573156,0.0003510615,0.0006162061,0.0006106459,0.000318914,0.0002478645,0.0005841427,0.001272609],"category_scores_gemma":[0.0004748736,0.0002657155,0.0003202284,0.0003074434,0.0004839394,0.000232889,0.0003580606,0.0004538428,0.0002363753],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001974927,"about_ca_system_score_gemma":0.0001740559,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007021008,"about_ca_topic_score_gemma":0.0008739533,"domain_scores_codex":[0.9997712,0.00002226744,0.00002494434,0.0001084786,0.00004182705,0.00003137041],"domain_scores_gemma":[0.9997398,0.00005843649,0.0001007572,0.00001800744,0.00001882275,0.00006416433],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0009024034,0.0002871577,0.3428504,0.0001041001,0.0001797756,0.3605297,0.002659697,0.0007954869,0.2741965,0.0005920285,0.0006122361,0.01629053],"study_design_scores_gemma":[0.00009221389,0.0009645835,0.329977,0.00003222861,0.000153162,0.6372947,0.0004544022,0.001793127,0.02696246,0.0003903288,0.0018317,0.0000541649],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990662,0.00007101085,0.000516678,0.00002721643,0.000004664501,0.000009810077,0.00005262022,0.00001695167,0.0002349318],"genre_scores_gemma":[0.9993352,0.0000421955,0.0002719569,0.00003119216,0.000007592871,0.000005935159,0.00007632557,0.000007910831,0.0002216236],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001272609,"threshold_uncertainty_score":0.004257321,"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."}}