{"id":"W2153994884","doi":"10.1186/gb-2010-11-5-r52","title":"Towards a comprehensive structural variation map of an individual human genome","year":2010,"lang":"en","type":"article","venue":"Genome biology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":359,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Canada Research Chairs; University of Toronto","funders":"Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Sickkids Research Institute; Hospital for Sick Children; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Stiftelsen för Strategisk Forskning; Koninklijke Nederlandse Akademie van Wetenschappen; Ontario Genomics; Genome Canada; University of Toronto; GlaxoSmithKline; Göran Gustafssons Stiftelser; Ontario Genomics Institute; Canadian Institute for Advanced Research","keywords":"Structural variation; Indel; Genome; Reference genome; Biology; 1000 Genomes Project; Genetics; Single-nucleotide polymorphism; Copy-number variation; Whole genome sequencing; Computational biology; Human genome; Genome project; SNP array; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000118227,0.0001629343,0.0001999143,0.00007000357,0.0001281263,0.00001743403,0.0003293171,0.0002711124,0.0002948086],"category_scores_gemma":[0.00001030466,0.0001531862,0.00007381713,0.00004477699,0.0001604161,0.000006462627,0.0001699391,0.0001278989,0.00001224347],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008761918,"about_ca_system_score_gemma":0.00008508018,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001511433,"about_ca_topic_score_gemma":0.0001078794,"domain_scores_codex":[0.9989889,0.00008001709,0.0002942508,0.0003181636,0.00006542794,0.0002532231],"domain_scores_gemma":[0.9992297,0.000005526371,0.0001621043,0.0003781886,0.00014749,0.00007695286],"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":[0.00002258505,0.00002658158,0.001393648,0.00001271769,0.00008022111,6.637203e-7,0.00037528,0.00002702744,0.9927315,0.005038021,0.000005401795,0.0002863677],"study_design_scores_gemma":[0.0009899903,0.001313449,0.8963634,0.000001429157,0.00005769001,0.00006677466,0.0003113343,0.00001849022,0.06738668,0.005063314,0.02797855,0.0004489244],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983431,0.0001514089,0.0002156675,0.00005833334,0.0003384372,0.000156956,0.0004083754,0.00001326889,0.0003145161],"genre_scores_gemma":[0.9932666,0.000005520753,0.003395343,0.0001072609,0.0005515915,0.00001536482,0.002524683,0.00001622461,0.0001173438],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9253448,"threshold_uncertainty_score":0.6246753,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01313146241034681,"score_gpt":0.2601720855800262,"score_spread":0.2470406231696795,"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."}}