{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001209774,0.0001935716,0.0002987827,0.00005698358,0.00003541539,0.000005394988,0.0002529541,0.0001405394,0.00007905634],"category_scores_gemma":[0.0002444117,0.0001764229,0.00006003054,0.0002107113,0.0001354865,0.000002081117,0.0001311142,0.00009585009,0.000003484157],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002521043,"about_ca_system_score_gemma":0.0001002069,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004775279,"about_ca_topic_score_gemma":0.00002301193,"domain_scores_codex":[0.998643,0.00007734609,0.0004090569,0.0003760129,0.0002234626,0.0002710606],"domain_scores_gemma":[0.9992594,0.00001267574,0.0001440287,0.0002570559,0.0001395472,0.0001873101],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000145784,0.00009978952,0.01179198,0.00009230833,0.00004251083,0.00001223644,0.0002615117,0.0002896006,0.9824197,0.000006525682,0.004308193,0.0005298321],"study_design_scores_gemma":[0.009359248,0.004914103,0.03996638,0.0001703146,0.0001676464,0.000009355366,0.0009288763,0.002321444,0.9248279,0.0001294327,0.0163369,0.0008683958],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955615,0.002945753,0.0004030453,0.0002507923,0.0002270856,0.000264193,0.0001076227,0.0000109573,0.0002290643],"genre_scores_gemma":[0.9970726,0.0005219058,0.0003305423,0.0006102168,0.0002598689,0.00001141302,0.001112895,0.00003227391,0.00004822525],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05759182,"threshold_uncertainty_score":0.7194315,"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."}}