{"id":"W2563965053","doi":"10.1182/blood.v126.23.2416.2416","title":"Copy Number Variants Underlying Inherited Bone Marrow Failure Syndromes","year":2015,"lang":"en","type":"article","venue":"Blood","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"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; CancerCare Manitoba; Population Health Research Institute; Children's Hospital of Eastern Ontario; BC Children's Hospital; Royal University Hospital; Montreal Children's Hospital; University of Toronto; SickKids Foundation; Princess Margaret Cancer Centre; Kingston General Hospital; University of Manitoba; Alberta Children's Hospital; Izaak Walton Killam Health Centre; Hospital for Sick Children","funders":"","keywords":"Copy-number variation; Exact test; SNP array; Genetics; Biology; Genotype; Genotype-phenotype distinction; Genetic testing; Bone marrow failure; SNP; Copy number analysis; Single-nucleotide polymorphism; Bioinformatics; Medicine; Gene; Genome; Internal medicine; Haematopoiesis","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002190394,0.0003665079,0.0002348938,0.001419785,0.0003690891,0.000302814,0.0003677548,0.0002302545,0.00258089],"category_scores_gemma":[0.001495669,0.00006732656,0.0001921626,0.001422406,0.0003606774,0.0001068456,0.0002243849,0.0001563573,0.0001341533],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006650042,"about_ca_system_score_gemma":0.0007450986,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.04175549,"about_ca_topic_score_gemma":0.04181447,"domain_scores_codex":[0.9996694,0.00002971421,0.00002486784,0.00007220729,0.0001488498,0.00005491974],"domain_scores_gemma":[0.9994439,0.0001870135,0.0002098252,0.00002317063,0.00008036502,0.00005566574],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004804434,0.00002419909,0.9389307,0.0001102091,0.0001369815,0.01378441,0.0002355539,0.0008309227,0.02222761,0.0008459786,0.0008270575,0.02156604],"study_design_scores_gemma":[0.00002727643,0.00008226886,0.9698303,0.0000360314,0.0001115453,0.02223144,0.0001457354,0.001235414,0.004163529,0.0005053478,0.001617189,0.00001399672],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950069,0.00101929,0.0007712008,0.0000743412,0.00001011393,0.00002763055,0.001434987,0.00002547782,0.001630041],"genre_scores_gemma":[0.9989942,0.0001493705,0.0003335233,0.0000204979,0.000007281013,0.000004802392,0.0003544694,0.000002668085,0.0001332407],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04175549,"threshold_uncertainty_score":0.08302492,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06830775344702059,"score_gpt":0.3305787179845353,"score_spread":0.2622709645375148,"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."}}