{"id":"W2020084010","doi":"10.1159/000184711","title":"Germline copy number variation in control populations","year":2008,"lang":"en","type":"review","venue":"Cytogenetic and Genome Research","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"","keywords":"Copy-number variation; Biology; Genotyping; Genetics; Phenotype; Germline; Human genome; Genome-wide association study; Genomics; Genome; Variation (astronomy); Population; Structural variation; Evolutionary biology; Computational biology; Genotype; Single-nucleotide polymorphism; Gene; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000470172,0.0002753348,0.0006178124,0.0002217857,0.0002388284,0.00005250695,0.0002490622,0.0004256995,0.0001234487],"category_scores_gemma":[0.00007281528,0.0002552567,0.000158606,0.0003178039,0.0001529545,0.00000355526,0.0001775725,0.000321909,0.0001033656],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007422329,"about_ca_system_score_gemma":0.0004709293,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000969804,"about_ca_topic_score_gemma":0.00005154535,"domain_scores_codex":[0.99771,0.0004650065,0.000542397,0.000552165,0.0002464407,0.0004839437],"domain_scores_gemma":[0.9991129,0.00005619618,0.0001093027,0.0004345209,0.0001565569,0.0001305384],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003972075,0.0018744,0.03221242,0.0216302,0.002310503,0.0003286173,0.002465467,0.0008275768,0.004471492,0.01054684,0.004048097,0.9188872],"study_design_scores_gemma":[0.0005455896,0.0001155964,0.004538633,0.0002559889,0.00006039335,0.0002273791,0.00002580322,0.000008968238,0.000006877663,0.0001956158,0.9936744,0.0003447554],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.004564442,0.9931235,0.0002968947,0.00002729345,0.00006962692,0.0007869399,0.0001821023,0.000006398372,0.0009427594],"genre_scores_gemma":[0.03433062,0.9624045,0.0003827556,0.00001612513,0.000399038,0.0002326256,0.0005733816,0.00004713753,0.00161384],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9896263,"threshold_uncertainty_score":0.99999,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1171812119353855,"score_gpt":0.4050477751340986,"score_spread":0.2878665631987131,"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."}}