{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001174213,0.00007113325,0.0001572936,0.00002142052,0.00001649759,0.000003516964,0.0000608815,0.000103014,0.00008412572],"category_scores_gemma":[0.00004548579,0.00006829639,0.0001172707,0.00004811046,0.0001437806,0.000004674891,0.00001693128,0.00007999666,0.000005457585],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":6.843857e-8,"about_ca_system_score_gemma":0.00004726636,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003328986,"about_ca_topic_score_gemma":0.0000177403,"domain_scores_codex":[0.9991259,0.0000982143,0.000365848,0.0002400829,0.00006576104,0.0001042154],"domain_scores_gemma":[0.9996929,0.00003661728,0.00006172366,0.00006725769,0.00003203429,0.0001094486],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007125352,0.0000349205,0.9958103,0.0000158636,0.00002020313,0.000002124722,0.00004357878,0.001121118,0.001504209,0.0001652932,0.00007496703,0.0004949069],"study_design_scores_gemma":[0.0007449887,0.0002054013,0.9925449,0.000001219591,0.000006009282,0.000001306698,0.000006714719,0.0008195784,0.00004424245,0.0005318183,0.005027182,0.00006656748],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9624,0.0002501041,0.0002479321,0.03608787,0.00002797347,0.00007159534,0.00001831338,0.000002868697,0.0008933641],"genre_scores_gemma":[0.9862357,0.0001923918,0.00005838494,0.0133449,0.00008095585,0.00000218624,0.00005474314,0.000005363242,0.00002533013],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02383577,"threshold_uncertainty_score":0.2785046,"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."}}