{"id":"W2610557320","doi":"10.1038/s41525-017-0019-2","title":"The clinical impact of copy number variants in inherited bone marrow failure syndromes","year":2017,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Janeway Children's Health and Rehabilitation Centre; London Health Sciences Centre; McMaster University; University of Alberta; Centre hospitalier universitaire de Québec; Centre Hospitalier Universitaire de Sherbrooke; Centre Hospitalier Universitaire Sainte-Justine; Population Health Research Institute; Children's Hospital of Eastern Ontario; CancerCare Manitoba; BC Children's Hospital; Royal University Hospital; Montreal Children's Hospital; University of Toronto; Princess Margaret Cancer Centre; Kingston General Hospital; University of Manitoba; Alberta Children's Hospital; Izaak Walton Killam Health Centre; Hospital for Sick Children","funders":"Garron Family Cancer Centre; Canadian Institutes of Health Research; Childhood Cancer Canada; C17 Council","keywords":"Copy-number variation; Biology; Bone marrow; Genetics; Bone marrow failure; Genotype; Myelodysplastic syndromes; Comparative genomic hybridization; Haematopoiesis; Gene; Genome; Immunology; Stem cell","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004076138,0.0001372078,0.0002985489,0.00001682745,0.0001206181,0.00001301563,0.0002890473,0.0001478762,0.0001121904],"category_scores_gemma":[0.000258846,0.00008172377,0.0001043495,0.00002924998,0.0003173253,0.000003020155,0.0001056783,0.0001021237,0.00001755917],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001311315,"about_ca_system_score_gemma":0.00009754291,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005399325,"about_ca_topic_score_gemma":0.0003911756,"domain_scores_codex":[0.9990269,0.00006913588,0.0003651365,0.0002379411,0.00009292698,0.0002079923],"domain_scores_gemma":[0.9989125,0.00003126309,0.0002316508,0.0007009901,0.00004194822,0.00008171452],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002733851,0.0001788905,0.9432037,0.00001119965,0.0003682591,0.00003794739,0.0000615688,0.000002196364,0.03548189,0.00003664719,0.01162236,0.008721943],"study_design_scores_gemma":[0.005542262,0.000743985,0.9868302,0.00005223795,0.00006930689,0.00006010447,0.00008907251,0.00001856927,0.000885612,0.0003269555,0.005248595,0.000133142],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954014,0.001562955,0.00001014684,0.0008636316,0.0001775457,0.0001789664,0.00001467241,0.000002756574,0.001787875],"genre_scores_gemma":[0.9979469,0.0009978138,0.0001111336,0.0000742862,0.000151379,0.000009009404,0.00004523101,0.00001567622,0.0006486356],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04362644,"threshold_uncertainty_score":0.3332599,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02626536263923573,"score_gpt":0.3568558615338376,"score_spread":0.3305904988946018,"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."}}