{"id":"W3000498499","doi":"10.1002/acn3.50957","title":"Genome sequencing in persistently unsolved white matter disorders","year":2020,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill Genome Centre; McGill University Health Centre; Montreal Children's Hospital","funders":"Canadian Institutes of Health Research; National Health and Medical Research Council; State Government of Victoria; Murdoch Children's Research Institute; Medical Research Council; Children’s Hospital of Wisconsin Research Institute; Children's Hospital of Philadelphia","keywords":"Medicine; Genome; Computational biology; DNA sequencing; White (mutation); Whole genome sequencing; Genetics; DNA; Biology; Gene","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":[0.00185194,0.0002313085,0.0002056683,0.00101513,0.0003437333,0.0006849323,0.000355245,0.0005583453,0.0006016461],"category_scores_gemma":[0.007032087,0.0001458185,0.000160591,0.0007220265,0.0004664221,0.0003050678,0.0004452383,0.0002331236,0.0002097071],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002783577,"about_ca_system_score_gemma":0.0003175748,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001586419,"about_ca_topic_score_gemma":0.002830072,"domain_scores_codex":[0.9989741,0.0003976655,0.00008237688,0.0002929608,0.0001590023,0.00009393516],"domain_scores_gemma":[0.9980106,0.001035519,0.0002913938,0.0003388383,0.0002328526,0.00009085549],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006256508,0.00007526905,0.9136456,0.0001034294,0.0001934084,0.003705945,0.001024117,0.001087003,0.03150481,0.000959586,0.001046333,0.04602873],"study_design_scores_gemma":[0.00007188569,0.0006520479,0.9363672,0.0000907115,0.0003383505,0.0186807,0.0008062925,0.004283377,0.02727263,0.001889062,0.009517328,0.00003038475],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969209,0.0009633807,0.00125978,0.000109052,0.00001091816,0.00001222525,0.0003280104,0.00001490457,0.0003808759],"genre_scores_gemma":[0.996734,0.0005625502,0.001674139,0.00009462137,0.00002103097,0.000006841869,0.000701964,0.00001417456,0.0001906278],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00185194,"threshold_uncertainty_score":0.009794116,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0788368733930852,"score_gpt":0.3378327759486444,"score_spread":0.2589959025555592,"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."}}