{"id":"W2594494412","doi":"10.1002/humu.23211","title":"Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy","year":2017,"lang":"en","type":"article","venue":"Human Mutation","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Institute of Genetics; National Human Genome Research Institute; Center for Computational, Evolutionary and Human Genomics, Stanford University; National Institute of Mental Health; Ontario Genomics Institute; Canadian Institutes of Health Research; Children's Hospital of Eastern Ontario Foundation; Genome Canada; National Institutes of Health; National Science Foundation","keywords":"Biology; Sanger sequencing; Spinal muscular atrophy; Exome sequencing; Transcriptome; RNA splicing; Genetics; Progressive myoclonus epilepsy; Mutation; Exon; Bioinformatics; Gene; RNA; Gene expression","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":[0.0001697903,0.0001301743,0.000154375,0.00005790525,0.0001673384,0.0000514116,0.0001981005,0.00009424733,0.0000121511],"category_scores_gemma":[0.00005343696,0.0001153563,0.00006595813,0.00003319646,0.0001106437,0.00001722323,0.00002691508,0.00005854688,0.000002109653],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001985967,"about_ca_system_score_gemma":0.0000803869,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001108906,"about_ca_topic_score_gemma":0.0001116329,"domain_scores_codex":[0.9991421,0.00006385501,0.00019798,0.000280503,0.0001465057,0.0001691048],"domain_scores_gemma":[0.9992591,0.000004199099,0.0002534746,0.0003684876,0.00007907503,0.00003562865],"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":[0.0001022093,0.00005256688,0.01687203,0.0001117591,0.00005245842,0.00005937771,0.0002107443,0.00004279986,0.9798359,0.0001944062,0.0000024709,0.002463246],"study_design_scores_gemma":[0.001004565,0.001524441,0.0554532,0.0003048943,0.00006739766,0.00002221592,0.0001501694,0.00001431313,0.9405249,0.0006771744,0.00007065469,0.0001860968],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998305,0.0006126289,0.0004478904,0.00005392854,0.00002673446,0.0004363066,0.000006287679,0.000007218333,0.0001040691],"genre_scores_gemma":[0.9979943,0.00002600225,0.001528878,0.00001987679,0.00007453585,0.0002639771,0.00003624938,0.00002041364,0.0000357459],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03931106,"threshold_uncertainty_score":0.4704094,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01817794837516541,"score_gpt":0.2743781954360827,"score_spread":0.2562002470609173,"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."}}