{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001081942,0.0007090279,0.0008365517,0.005133266,0.0004067884,0.001215921,0.0009923138,0.0009733319,0.004222646],"category_scores_gemma":[0.003689812,0.0003977982,0.001339099,0.003885877,0.0003619648,0.0009014932,0.001197973,0.001216527,0.00231496],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007749855,"about_ca_system_score_gemma":0.00135191,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004179683,"about_ca_topic_score_gemma":0.002950626,"domain_scores_codex":[0.999355,0.00009642108,0.00003872549,0.0002999081,0.0001555624,0.00005439588],"domain_scores_gemma":[0.9982551,0.0006330115,0.0002091784,0.0002399508,0.0005262945,0.000136431],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001387288,0.0002813645,0.1216578,0.002771526,0.001459788,0.001385888,0.001098775,0.0612004,0.2951203,0.01744053,0.01308381,0.4831125],"study_design_scores_gemma":[0.0002090049,0.001307607,0.506223,0.0006964573,0.00247142,0.005248436,0.0006480278,0.1450069,0.07639617,0.07217404,0.1893693,0.0002495981],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.3285483,0.008170942,0.6115737,0.00146712,0.0001700177,0.0002627802,0.0378376,0.004798595,0.007170892],"genre_scores_gemma":[0.3757461,0.003968823,0.5636916,0.00043918,0.0002041076,0.0002897408,0.05290968,0.0006988546,0.002051987],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.005133266,"threshold_uncertainty_score":0.01412612,"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."}}