{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001527934,0.0004584101,0.0002416986,0.0005362554,0.0001894867,0.0002699649,0.000123914,0.0004591251,0.001444328],"category_scores_gemma":[0.0004601894,0.0001122143,0.0002139186,0.0002256991,0.000171703,0.0001434641,0.0001648162,0.0002344343,0.0007381883],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001131923,"about_ca_system_score_gemma":0.0001097616,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003777355,"about_ca_topic_score_gemma":0.0007570274,"domain_scores_codex":[0.9998879,0.00002008434,0.00001390838,0.00003140282,0.00003279364,0.00001382886],"domain_scores_gemma":[0.9998379,0.00006120552,0.00003799743,0.00001117179,0.00002688697,0.00002478617],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0002960584,0.0000479481,0.06611741,0.0001422897,0.00007047854,0.009229752,0.0001712507,0.0001760995,0.8974869,0.000192327,0.0009932684,0.02507628],"study_design_scores_gemma":[0.00003217674,0.0006217945,0.522225,0.0001388553,0.0002183782,0.05818604,0.0005648,0.004172066,0.3987938,0.001791777,0.01322577,0.0000295595],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9755687,0.002481771,0.01310585,0.0007615708,0.0001109156,0.00005347438,0.002730357,0.0004009868,0.004786273],"genre_scores_gemma":[0.9890733,0.001063194,0.00695746,0.0003539434,0.00004109778,0.00002163211,0.001275634,0.00004569998,0.001168012],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001444328,"threshold_uncertainty_score":0.004831791,"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."}}