{"id":"W4405173050","doi":"10.1016/j.gim.2024.101336","title":"Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Memphis Research Consortium; H2020 Marie Skłodowska-Curie Actions; National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; NIHR Cambridge Biomedical Research Centre; UCLH Biomedical Research Centre; HORIZON EUROPE Framework Programme; LGMD2D Foundation; Sanofi Genzyme; National Eye Institute; Eesti Teadusagentuur; National Institutes of Health; Canada First Research Excellence Fund; Canada Research Chairs; Medical Research Council; Ataxia UK; National Institute for Health and Care Research; Horizon Therapeutics; Kurt+Peter Foundation; UK Research and Innovation; Limb Girdle Muscular Dystrophy 2I; LifeArc; European Commission; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Government of Canada; Sanofi; Silicon Valley Community Foundation; Muscular Dystrophy UK; Ministry of Health; Chan Zuckerberg Initiative; Wellcome Trust; Canada Foundation for Innovation; Canadian Institutes of Health Research; Limb Girdle Muscular Dystrophy 2i Research Fund; National Human Genome Research Institute; Ultragenyx Pharmaceutical","keywords":"Spinal muscular atrophy; Exome sequencing; Exome; Medicine; Genome; Bioinformatics; Atrophy; Computational biology; Pathology; Genetics; Biology; Mutation; Gene; Disease","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":[0.008871402,0.001281837,0.001096389,0.005298491,0.000747052,0.001605711,0.001475469,0.001942259,0.001683215],"category_scores_gemma":[0.03404277,0.0005428005,0.0007692607,0.001972173,0.0004253133,0.001016124,0.001962954,0.001077956,0.0007958702],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006317544,"about_ca_system_score_gemma":0.00067673,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002697883,"about_ca_topic_score_gemma":0.007112553,"domain_scores_codex":[0.9935644,0.002008908,0.0008839569,0.002130485,0.001066675,0.0003454831],"domain_scores_gemma":[0.9725803,0.01871405,0.003380755,0.002060051,0.002622951,0.0006419641],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008754701,0.0001595286,0.9089097,0.0005954312,0.0006658732,0.002813837,0.0005444576,0.005212246,0.01866561,0.0003467855,0.006638437,0.05457257],"study_design_scores_gemma":[0.0002203265,0.0005264462,0.8244968,0.0005667485,0.0007697832,0.01208906,0.001041398,0.1027377,0.03535396,0.003951981,0.0181241,0.0001218199],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9161298,0.002810934,0.06127954,0.001000474,0.000165219,0.0002765931,0.01497402,0.00180386,0.001559487],"genre_scores_gemma":[0.895909,0.0004739805,0.07709496,0.0009801268,0.0001103278,0.0002123013,0.02446442,0.0001647332,0.0005902062],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008871402,"threshold_uncertainty_score":0.04691702,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2134234894163109,"score_gpt":0.4028383923824128,"score_spread":0.1894149029661019,"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."}}