{"id":"W3037027340","doi":"10.1002/mgg3.1374","title":"Disrupted minor intron splicing is prevalent in Mendelian disorders","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Intron; Mendelian inheritance; RNA splicing; Genetics; Biology; Minor allele frequency; Medicine; Computational biology; Bioinformatics; Gene; Genotype; Single-nucleotide polymorphism; RNA","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000268608,0.0002999984,0.0003256621,0.000112025,0.00005069462,0.00001761419,0.0004338634,0.0001566721,0.0001266715],"category_scores_gemma":[0.0001479908,0.0002829748,0.00009684676,0.0002485882,0.0001426424,0.000002645384,0.0002655158,0.0002314428,0.00003280548],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004801924,"about_ca_system_score_gemma":0.00009592699,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001406164,"about_ca_topic_score_gemma":0.00009355156,"domain_scores_codex":[0.997752,0.0001211177,0.000472953,0.0007090973,0.0003491458,0.0005957599],"domain_scores_gemma":[0.9989048,0.00001198065,0.00009518024,0.0005153109,0.00005389771,0.000418811],"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":[0.0001156135,0.00003372277,0.00410504,0.00006103703,0.00005883541,0.00002715088,0.0005254411,0.000669968,0.9820838,0.00002379417,0.001222819,0.01107279],"study_design_scores_gemma":[0.008628916,0.004238954,0.02209498,0.0002021226,0.0001660408,0.00003203553,0.001253298,0.02335147,0.7961336,0.000319421,0.1421447,0.001434539],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9749513,0.007132364,0.007526917,0.009095781,0.00008667546,0.0005511304,0.00001149721,0.00001509902,0.0006292847],"genre_scores_gemma":[0.991515,0.002468544,0.0008317229,0.004266842,0.000311791,0.0000324257,0.0001087513,0.00006451717,0.0004004227],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1859502,"threshold_uncertainty_score":0.9999623,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01332108612673874,"score_gpt":0.2754643475270215,"score_spread":0.2621432614002828,"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."}}