{"id":"W3034462793","doi":"10.1038/s41436-020-0840-3","title":"Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":108,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hotel Dieu Hospital","funders":"National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Sanofi Genzyme; National Eye Institute; Kurt+Peter Foundation; Broad Institute; Limb Girdle Muscular Dystrophy 2I; Limb Girdle Muscular Dystrophy 2i Research Fund; Ultragenyx Pharmaceutical; Sanofi","keywords":"Exome sequencing; Exome; Disease; Medicine; RYR1; Genetics; Etiology; Bioinformatics; Rare disease; Neuromuscular disease; Genetic testing; Gene; Phenotype; Biology; Pathology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.00030969,0.0005346559,0.0004074323,0.0008518196,0.0004660633,0.0005317366,0.0002448269,0.0006193373,0.001340002],"category_scores_gemma":[0.001079285,0.0002306109,0.0002768496,0.0006842291,0.0002333471,0.0001704009,0.0005651563,0.000303869,0.0004561596],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002926284,"about_ca_system_score_gemma":0.0001676216,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001551399,"about_ca_topic_score_gemma":0.001984547,"domain_scores_codex":[0.9997174,0.00003708834,0.0000377562,0.0001191557,0.00005717737,0.00003135997],"domain_scores_gemma":[0.9997302,0.0001051561,0.00004884339,0.00002751736,0.00004930781,0.00003895788],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001337632,0.0001594895,0.8777475,0.0001610343,0.0002555127,0.01866068,0.001120496,0.001308485,0.06903452,0.0001420467,0.001984412,0.02808802],"study_design_scores_gemma":[0.00008757827,0.0003355298,0.9684202,0.00003895884,0.0001218339,0.01872136,0.0003859366,0.001848248,0.006449657,0.0001957557,0.003375439,0.00001940467],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972157,0.0002502523,0.000567195,0.0000462024,0.00000502284,0.00002392532,0.001510332,0.00001400987,0.0003672881],"genre_scores_gemma":[0.9933485,0.0001994074,0.0008557414,0.0001250876,0.000007972098,0.00003786854,0.004826228,0.00001823203,0.000580931],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001551399,"threshold_uncertainty_score":0.004482746,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01481247846231682,"score_gpt":0.2447917729099983,"score_spread":0.2299792944476815,"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."}}