{"id":"W2770960279","doi":"10.1101/gr.226621.117","title":"<i>ABCA4</i>midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease","year":2017,"lang":"en","type":"article","venue":"Genome Research","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":175,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"FP7 People: Marie-Curie Actions; Stichting tot Verbetering van het Lot der Blinden; Stichting Blindenhulp; Landelijke Stichting voor Blinden en Slechtzienden; Retina UK; Macula Vision Research Foundation; Stichting Blinden-Penning; Stichting Steunfonds Uitzicht; Foundation Fighting Blindness","keywords":"splice; Biology; ABCA4; Exon; Splice site mutation; Genetics; Minigene; Intron; Exon skipping; RNA splicing; Gene; Context (archaeology); Alternative splicing; Computational biology; Phenotype; RNA","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002171989,0.0004084288,0.0003109972,0.0004326179,0.0001563378,0.0002953973,0.0002251414,0.0004446899,0.00131183],"category_scores_gemma":[0.0002875573,0.0001920491,0.0004682685,0.0002048238,0.0003338671,0.0001482686,0.0002682623,0.0005903277,0.0006214091],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002057536,"about_ca_system_score_gemma":0.0001323513,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003568439,"about_ca_topic_score_gemma":0.0008921076,"domain_scores_codex":[0.9997904,0.00003267646,0.00003722031,0.00005272223,0.0000546799,0.00003238577],"domain_scores_gemma":[0.9997001,0.00009168775,0.0001004978,0.00003887865,0.00002165653,0.0000472159],"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":[0.00004831389,0.0000101773,0.0003067697,0.00001325908,0.00000550233,0.0001495886,0.000009711223,0.00002629621,0.998332,0.00007610003,0.00002160675,0.001000784],"study_design_scores_gemma":[0.00001186033,0.0001777264,0.01335758,0.000006609057,0.00003956236,0.003133424,0.00002939063,0.0006743559,0.9795974,0.0001633675,0.002798815,0.000009783531],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.976214,0.00107521,0.01900651,0.0002164305,0.00005224898,0.00005880967,0.001312163,0.0003380605,0.001726605],"genre_scores_gemma":[0.9789363,0.0004995134,0.01638095,0.0002029593,0.00001757826,0.0000535457,0.002500721,0.0001742438,0.00123409],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00131183,"threshold_uncertainty_score":0.004388511,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05801159006077621,"score_gpt":0.3620010372375875,"score_spread":0.3039894471768113,"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."}}