{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007355048,0.0001833012,0.0004731936,0.0005418556,0.00002544058,0.00001226842,0.0002243393,0.00009075327,0.00006260187],"category_scores_gemma":[0.0005241234,0.0001545318,0.00003444999,0.0006432244,0.0003182223,0.00003530929,0.0002341377,0.0003529144,0.000003186252],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006866424,"about_ca_system_score_gemma":0.0002580816,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003641901,"about_ca_topic_score_gemma":0.0001106118,"domain_scores_codex":[0.9979661,0.00009296531,0.0005085396,0.0005598708,0.0005146005,0.0003578852],"domain_scores_gemma":[0.9988673,0.0001793564,0.00003908383,0.0006991228,0.0000552015,0.0001599403],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004783445,0.0003764026,0.118626,0.009001519,0.0003040317,0.02407541,0.004012029,0.0004228438,0.5998455,0.0001608598,0.0008257296,0.2418713],"study_design_scores_gemma":[0.01456165,0.006985606,0.8474438,0.0142561,0.0009897135,0.004480267,0.007952145,0.05175279,0.01277214,0.001361628,0.03622924,0.001214983],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8918284,0.1058159,0.0002687133,0.001230494,0.0001152278,0.0004773779,0.00001441297,0.0000161709,0.0002333038],"genre_scores_gemma":[0.9793183,0.01837009,0.00175677,0.0002585602,0.0001317697,0.00001402403,0.00007929769,0.00003738885,0.00003379607],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7288178,"threshold_uncertainty_score":0.6301624,"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."}}