{"id":"W1977498961","doi":"10.1007/s00439-007-0404-5","title":"Germ-line DNA copy number variation frequencies in a large North American population","year":2007,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":133,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ontario Institute for Cancer Research; Hospital for Sick Children; McGill University and Génome Québec Innovation Centre; SickKids Foundation; University of Toronto; Cancer Care Ontario; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"National Cancer Institute","keywords":"Biology; Copy-number variation; Genetics; SNP genotyping; Genotyping; SNP array; Human genome; Genome; Human genetics; Molecular Inversion Probe; Population; Structural variation; Genetic variation; Comparative genomic hybridization; Genomics; Single-nucleotide polymorphism; Gene; Genotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005521286,0.000332643,0.0004704623,0.001478633,0.001330084,0.0005295249,0.0005380984,0.0003412946,0.001791863],"category_scores_gemma":[0.001231191,0.0003239565,0.0002280707,0.001384945,0.0008707917,0.0002566844,0.000489404,0.0004098639,0.0002148441],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005180165,"about_ca_system_score_gemma":0.0003346009,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03392088,"about_ca_topic_score_gemma":0.04514803,"domain_scores_codex":[0.9993321,0.0002222759,0.00002832591,0.000259791,0.00009517839,0.00006222664],"domain_scores_gemma":[0.9993918,0.0002105447,0.00007930501,0.00007609702,0.0001202169,0.0001220544],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004659619,0.0001252607,0.9732291,0.00002440995,0.0001898245,0.001274534,0.004880766,0.0002341297,0.008236506,0.0002591384,0.0003643038,0.01071613],"study_design_scores_gemma":[0.00001186476,0.00008024162,0.9973832,0.000003757954,0.00004789157,0.0007992167,0.0007921939,0.0002325642,0.0001545282,0.00006375439,0.0004238774,0.000006900396],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994308,0.00006124903,0.0001383609,0.0000195664,0.000001806228,0.000004448856,0.00007931506,0.000003602463,0.0002608176],"genre_scores_gemma":[0.9990826,0.0001025221,0.0001695482,0.0000232741,0.000007060741,0.00001114331,0.0001199585,0.000004484597,0.0004795554],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03392088,"threshold_uncertainty_score":0.06744689,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01100503389379135,"score_gpt":0.263262513208258,"score_spread":0.2522574793144666,"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."}}