{"id":"W4387405360","doi":"10.1101/2023.10.05.23296595","title":"Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; Sanofi Genzyme; State Government of Victoria; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Sanofi; European Commission; Kurt+Peter Foundation; Murdoch Children's Research Institute; Fonds de Recherche du Québec - Santé; Limb Girdle Muscular Dystrophy 2I; National Institutes of Health; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; Children’s Hospital of Wisconsin Research Institute; Limb Girdle Muscular Dystrophy 2i Research Fund; Ultragenyx Pharmaceutical; National Institute of Neurological Disorders and Stroke; Massachusetts General Hospital","keywords":"Exome sequencing; Copy-number variation; Exome; Genomics; Mendelian inheritance; Genetics; Pathogenicity; Cohort; Biology; Genetic testing; Computational biology; Phenotype; Medicine; Genome; Gene; Pathology","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":[0.001075033,0.0003404302,0.0003379599,0.001490952,0.0008233332,0.0005770078,0.0002805061,0.0005163594,0.001280438],"category_scores_gemma":[0.004162535,0.0002341635,0.000287552,0.0007949932,0.0003889222,0.0003799796,0.0005579463,0.0003772051,0.0002162016],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002900959,"about_ca_system_score_gemma":0.0001907817,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003747889,"about_ca_topic_score_gemma":0.002799056,"domain_scores_codex":[0.9991899,0.000211299,0.00006555389,0.0003316347,0.0001249909,0.00007669095],"domain_scores_gemma":[0.9989512,0.0005032095,0.0001954199,0.0001430458,0.0001020801,0.0001050155],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001574638,0.0000479155,0.9908735,0.00000548105,0.00003148428,0.001919198,0.0003362118,0.0001450259,0.003455178,0.00005170067,0.0001294142,0.002847381],"study_design_scores_gemma":[0.00001179661,0.00008358193,0.9926161,0.000005464148,0.000029045,0.004699489,0.0002592965,0.001291966,0.0006097041,0.00009087982,0.0002935089,0.000009254945],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995072,0.00003980085,0.0002254569,0.00001382503,0.000001401169,0.000004417532,0.0001101698,0.000004433921,0.00009332284],"genre_scores_gemma":[0.9992207,0.00004046691,0.0003665769,0.0000212277,0.000004473581,0.00000884724,0.0002243453,0.000005854956,0.0001074305],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003747889,"threshold_uncertainty_score":0.00745213,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01032592053229148,"score_gpt":0.2350108856745587,"score_spread":0.2246849651422673,"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."}}