{"id":"W4281631874","doi":"10.1038/s41525-022-00307-y","title":"Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing","year":2022,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital; Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"Courtois Foundation; Fondation du Grand défi Pierre Lavoie; Université de Montréal; Canadian Institutes of Health Research; Rare Disease Foundation","keywords":"Biology; Nonsense mutation; Exon; Genetics; Alternative splicing; Gene isoform; Nonsense; Nonsense-mediated decay; Mutation; RNA splicing; Exon skipping; Transcriptome; Protein isoform; Gene; Exome sequencing; Mendelian inheritance; Myopathy; Computational biology; RNA; Gene expression; Missense mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003459709,0.00009009979,0.0001621861,0.00007948319,0.0001180867,0.000002885661,0.0001160277,0.00002678585,0.00006658462],"category_scores_gemma":[0.00008495419,0.00008362525,0.00002496515,0.00006434187,0.0001424748,0.000001576446,0.0001660936,0.000117,0.000001355753],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003028471,"about_ca_system_score_gemma":0.00006388908,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004266145,"about_ca_topic_score_gemma":0.0000280639,"domain_scores_codex":[0.9991607,0.00006113169,0.0001978727,0.0002253341,0.0001907881,0.0001641495],"domain_scores_gemma":[0.9995406,0.00003755041,0.0001004973,0.0001878991,0.00005188437,0.00008161322],"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":[0.0001229907,0.00002405531,0.000412902,0.00001970232,0.00003871686,0.00002191955,0.0003514132,0.0003258119,0.9957323,0.00009413864,0.000432612,0.002423443],"study_design_scores_gemma":[0.02578067,0.01275484,0.07555016,0.0002428469,0.0002565992,0.004946497,0.01718445,0.03104236,0.7923745,0.0007178847,0.03761907,0.001530114],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960289,0.0009413696,0.001890472,0.0002626129,0.0001062633,0.0001738426,0.00002117577,0.000004373105,0.0005710064],"genre_scores_gemma":[0.9981137,0.00009140581,0.0003983397,0.0003176353,0.0001822961,0.00001390118,0.00006271611,0.00001469054,0.0008052948],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2033578,"threshold_uncertainty_score":0.3410139,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01923628053184466,"score_gpt":0.27963461386963,"score_spread":0.2603983333377853,"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."}}