{"id":"W4399352796","doi":"10.1056/nejmoa2314761","title":"Genome Sequencing for Diagnosing Rare Diseases","year":2024,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":184,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; Limb Girdle Muscular Dystrophy 2i Research Fund; Canadian Institutes of Health Research; LGMD2D Foundation; Sanofi Genzyme; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Muscular Dystrophy UK; State Government of Victoria; Dietmar Hopp Stiftung; National Eye Institute; Eesti Teadusagentuur; Kurt+Peter Foundation; Chan Zuckerberg Initiative; Fonds de Recherche du Québec - Santé; Royal Children's Hospital Foundation; National Human Genome Research Institute; Ultragenyx Pharmaceutical; Broad Institute; Murdoch Children's Research Institute; National Health and Medical Research Council; National Institute of Dental and Craniofacial Research; Thrasher Research Fund; Massachusetts General Hospital; National Institutes of Health; Foundation Fighting Blindness; McLaughlin Centre, University of Toronto","keywords":"Computational biology; DNA sequencing; Genome; Biology; Genetics; DNA; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001997302,0.00009434146,0.0001640953,0.00007058151,0.00004070903,0.00002158706,0.0001049013,0.00003763873,0.00003375493],"category_scores_gemma":[0.000277517,0.00006271886,0.0001048941,0.00004659783,0.00003722575,0.000004544234,0.0000184109,0.00006295592,8.650208e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002059584,"about_ca_system_score_gemma":0.0002777794,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007218965,"about_ca_topic_score_gemma":0.000005432453,"domain_scores_codex":[0.9993849,0.00002032195,0.000238287,0.0001183801,0.0001096902,0.0001284484],"domain_scores_gemma":[0.9994858,0.00006864972,0.00007264796,0.00008848951,0.00009126798,0.0001931559],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008983975,0.00006050811,0.003774023,0.0004544803,0.0005228904,0.001021155,0.0008973564,0.0008727906,0.7773092,0.0003517396,0.04460129,0.1692361],"study_design_scores_gemma":[0.01317716,0.002214364,0.004032254,0.0006600642,0.0004869914,0.001612896,0.0004318063,0.0001703047,0.006502251,0.00256945,0.9678696,0.0002729064],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9147111,0.07690085,0.00498799,0.002007064,0.001082432,0.000109931,0.00004174246,0.000007079893,0.0001517852],"genre_scores_gemma":[0.9884773,0.001544768,0.000325917,0.0002888659,0.009016461,0.000001892683,0.00005895447,0.0000182524,0.000267538],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9232683,"threshold_uncertainty_score":0.2557601,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01442789900438868,"score_gpt":0.270673337276942,"score_spread":0.2562454382725534,"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."}}