{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001575223,0.0006290259,0.0004229731,0.0006677315,0.0003808044,0.0003676973,0.0003797582,0.001537646,0.001336564],"category_scores_gemma":[0.0006579402,0.0001810687,0.0004243479,0.0002974501,0.0005988785,0.0002045414,0.0004289277,0.0006805949,0.0003475166],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000248156,"about_ca_system_score_gemma":0.0001621905,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000353224,"about_ca_topic_score_gemma":0.0004996656,"domain_scores_codex":[0.999706,0.0000293749,0.00003440666,0.000118521,0.00006114139,0.00005047907],"domain_scores_gemma":[0.999572,0.0001759855,0.0000821929,0.00003045834,0.00002821086,0.0001111409],"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":[0.0001968877,0.00006703803,0.01202289,0.00005872413,0.00003786463,0.8616667,0.0002713176,0.0002884288,0.1198468,0.0009074184,0.0002647302,0.004371268],"study_design_scores_gemma":[0.00002950352,0.0003953269,0.04133148,0.00001427514,0.00005037678,0.9217623,0.0001184659,0.001915897,0.03224428,0.0007543061,0.001357716,0.00002602591],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934834,0.0004209211,0.004127953,0.000340844,0.00005895699,0.00003367839,0.0002206364,0.0001431937,0.001170381],"genre_scores_gemma":[0.9975759,0.00009943501,0.001360932,0.0001155763,0.00005726154,0.000008516794,0.00009550824,0.00001965568,0.0006671391],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001537646,"threshold_uncertainty_score":0.004471302,"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."}}