{"id":"W2155707112","doi":"10.1038/nature05329","title":"Global variation in copy number in the human genome","year":2006,"lang":"en","type":"article","venue":"Nature","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4370,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta; Hospital for Sick Children; University of Toronto","funders":"Ontario Ministry of Research and Innovation; Canadian Institutes of Health Research; Hospital for Sick Children; Generalitat de Catalunya; Ontario Genomics Institute; Wellcome Trust; Instituto de Salud Carlos III; Sick Kids Foundation; Japan Science and Technology Agency; Ontario Genomics; Leukemia and Lymphoma Society; Genome Canada; Ontario Innovation Trust; Brigham and Women's Hospital; Core Research for Evolutional Science and Technology; Ministry of Education, Culture, Sports, Science and Technology; Howard Hughes Medical Institute","keywords":"Copy-number variation; International HapMap Project; Biology; Genetics; dbSNP; Linkage disequilibrium; Genome; Genotyping; Single-nucleotide polymorphism; Human genome; Structural variation; Comparative genomic hybridization; SNP array; SNP genotyping; Human genetic variation; Computational biology; Gene; Genotype","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":[0.0002352758,0.0001549849,0.0002612892,0.0009499019,0.000113803,0.0003966047,0.0001999673,0.0002467341,0.001336251],"category_scores_gemma":[0.0009086706,0.0001786552,0.0001307671,0.0008358295,0.0004416999,0.0004484344,0.0002333569,0.0003010184,0.0001634692],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002397266,"about_ca_system_score_gemma":0.0001076758,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008344508,"about_ca_topic_score_gemma":0.001037043,"domain_scores_codex":[0.9998283,0.00002848483,0.000009274926,0.00007821,0.00004178745,0.00001374724],"domain_scores_gemma":[0.9996229,0.0001855707,0.00007080488,0.00005566434,0.00003365819,0.0000313599],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001235944,0.00003599405,0.2289445,0.0002204971,0.0004383551,0.0006984493,0.0003868703,0.005986944,0.6503426,0.006255419,0.001304873,0.1041496],"study_design_scores_gemma":[0.00002948199,0.0001836947,0.9105037,0.00001814247,0.0002115777,0.003562495,0.0001251227,0.004555927,0.06268445,0.01167879,0.006405454,0.00004121084],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9814945,0.005452648,0.007655179,0.0004118283,0.00004004268,0.000006741612,0.001607227,0.0001658231,0.003165962],"genre_scores_gemma":[0.9962285,0.001056685,0.001221616,0.00005833135,0.00003696691,0.000004927816,0.000362228,0.00002671862,0.001004112],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001336251,"threshold_uncertainty_score":0.00447017,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003307980314856743,"score_gpt":0.2362145121561318,"score_spread":0.2329065318412751,"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."}}