{"id":"W3085983645","doi":"10.1007/s00439-020-02224-5","title":"Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant","year":2020,"lang":"en","type":"letter","venue":"Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"Fonds de Recherche du Québec - Santé; Institut de recherche, Centre universitaire de santé McGill","keywords":"Biology; Human genetics; Genetics; Molecular medicine; splice; Encephalopathy; RNA splicing; Bioinformatics; Computational biology; Gene; Internal medicine; RNA; Medicine; Cell cycle","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001002675,0.0005089985,0.000413454,0.0001142264,0.000181523,0.00005299809,0.000414993,0.00081669,0.0002284053],"category_scores_gemma":[0.000047169,0.000490466,0.000156684,0.0001584717,0.00007175339,0.000002499609,0.0002475742,0.0007691483,0.0003253436],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004022666,"about_ca_system_score_gemma":0.0001638616,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006500503,"about_ca_topic_score_gemma":0.0000719257,"domain_scores_codex":[0.9974085,0.0002293401,0.0004251822,0.001109635,0.0003580727,0.0004692728],"domain_scores_gemma":[0.9985095,0.00001554235,0.0002316066,0.0008105567,0.0002466617,0.0001860846],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001333694,0.00003855197,0.00007049769,0.0001099239,0.00007922843,0.00099956,0.0002998664,0.00008511945,0.1599647,0.00001632186,0.8364466,0.001756194],"study_design_scores_gemma":[0.0005673578,0.001979144,0.0002357557,0.00004840615,0.000136006,0.0005162299,0.00001780406,0.0000209747,0.004091303,0.00007575538,0.9915502,0.0007610564],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.3546603,0.01130918,0.1110369,0.4731955,0.01608496,0.01053789,0.004645519,0.0006618921,0.01786795],"genre_scores_gemma":[0.01565635,0.0006778495,0.01283453,0.9149565,0.02925446,0.0003511136,0.01608999,0.00040909,0.009770182],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.441761,"threshold_uncertainty_score":0.9997547,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01633343428398671,"score_gpt":0.2407479103999445,"score_spread":0.2244144761159578,"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."}}