{"id":"W2992919418","doi":"10.1038/s41525-019-0104-9","title":"Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels","year":2019,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Alberta; Centre hospitalier universitaire de Québec; Janeway Children's Health and Rehabilitation Centre; Princess Margaret Cancer Centre; Kingston General Hospital; Centre Hospitalier Universitaire de Sherbrooke; McMaster University; Izaak Walton Killam Health Centre; Alberta Children's Hospital; BC Children's Hospital; London Health Sciences Centre; Centre Hospitalier Universitaire Sainte-Justine; Population Health Research Institute; Children's Hospital of Eastern Ontario; University of Toronto; Royal University Hospital; Montreal Children's Hospital; University of Manitoba; Research Institute in Oncology and Hematology; CancerCare Manitoba; Hospital for Sick Children","funders":"Childhood Cancer Canada; C17 Council","keywords":"Bone marrow; Gene; Copy-number variation; Genetics; Computational biology; Biology; Genome; Immunology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0006526741,0.0003968626,0.0003459509,0.002679905,0.0002441322,0.0005711177,0.0002635836,0.0002451387,0.001197211],"category_scores_gemma":[0.002925147,0.0001346678,0.0003813299,0.001197078,0.0002789927,0.0001743013,0.0003243363,0.0002902101,0.0002763752],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002731356,"about_ca_system_score_gemma":0.0002068806,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001234947,"about_ca_topic_score_gemma":0.001727364,"domain_scores_codex":[0.9989874,0.000216462,0.0001120939,0.0002449432,0.0003606037,0.00007859662],"domain_scores_gemma":[0.9991379,0.0004334956,0.0001554805,0.0000971335,0.00012618,0.00004993923],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006567269,0.00007267809,0.4688466,0.0002145978,0.0003274977,0.002505444,0.000446079,0.002369198,0.4641409,0.0004128126,0.0007657593,0.05924179],"study_design_scores_gemma":[0.00002842865,0.0003035258,0.8013347,0.00006879383,0.0002716566,0.009139583,0.0003671843,0.01726474,0.165168,0.0006546689,0.005361349,0.0000373163],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898403,0.0007781739,0.007023206,0.00005487701,0.00001490655,0.00004811947,0.001320993,0.0001909326,0.0007283476],"genre_scores_gemma":[0.9904276,0.0001253436,0.007572367,0.00003963593,0.000006259604,0.00003572949,0.001532399,0.00002460063,0.0002360968],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002679905,"threshold_uncertainty_score":0.004005075,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01258728848965437,"score_gpt":0.2516661540299086,"score_spread":0.2390788655402542,"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."}}