{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004900553,0.0007577668,0.0005854844,0.003296511,0.0004136829,0.00104196,0.0007330572,0.001496302,0.004082079],"category_scores_gemma":[0.01135377,0.0002865802,0.0005561056,0.001528316,0.0004720501,0.0007294203,0.001125969,0.001614794,0.00245652],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000639316,"about_ca_system_score_gemma":0.001011086,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001741842,"about_ca_topic_score_gemma":0.001903478,"domain_scores_codex":[0.9973723,0.001347918,0.0001882534,0.0004549166,0.0005071431,0.0001296349],"domain_scores_gemma":[0.9939979,0.002674557,0.0007707821,0.0009184244,0.001206737,0.0004314938],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001031532,0.0001819127,0.1046465,0.002001735,0.0007616028,0.002852536,0.0005292591,0.002766851,0.05941461,0.01302046,0.1385285,0.6742645],"study_design_scores_gemma":[0.000772765,0.001030085,0.1765782,0.003214132,0.001329482,0.02872226,0.0005626624,0.0195169,0.04992798,0.05574099,0.6623765,0.0002279962],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.2206683,0.2037035,0.3995741,0.05650325,0.008409145,0.001962852,0.03518356,0.008340981,0.06565428],"genre_scores_gemma":[0.4651135,0.05744715,0.4250976,0.01552883,0.003393207,0.001047291,0.02413378,0.0007362358,0.007502282],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.004900553,"threshold_uncertainty_score":0.02591693,"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."}}