{"id":"W2083870688","doi":"10.1038/nrg2958","title":"Genome structural variation discovery and genotyping","year":2011,"lang":"en","type":"review","venue":"Nature Reviews Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1719,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Wellcome Trust; National Human Genome Research Institute; Howard Hughes Medical Institute","keywords":"Structural variation; Biology; Genotyping; Copy-number variation; Genome; Computational biology; Variation (astronomy); Human genome; Reference genome; Genetics; Evolutionary biology; Gene; Genotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003841534,0.001763602,0.002656727,0.003171086,0.0003996556,0.001838699,0.002868225,0.003471725,0.003131379],"category_scores_gemma":[0.004839174,0.001063831,0.0008521078,0.003032587,0.002109125,0.001889102,0.001681866,0.004150104,0.002190046],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001608188,"about_ca_system_score_gemma":0.001793408,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003255632,"about_ca_topic_score_gemma":0.00378914,"domain_scores_codex":[0.9987783,0.0002990267,0.0001011736,0.000277473,0.0004541069,0.00008992694],"domain_scores_gemma":[0.9977379,0.001285212,0.0001650232,0.0001440433,0.0005344028,0.0001335128],"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":[0.00007542151,0.0000610718,0.0004737684,0.003905707,0.0001315233,0.0002464491,0.00004292653,0.0006972887,0.001839879,0.00966253,0.08545089,0.8974125],"study_design_scores_gemma":[0.00004746,0.00004946886,0.001543661,0.001880312,0.000168833,0.001890814,0.00004822201,0.0004585253,0.001127672,0.01418835,0.9785444,0.00005240928],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001557181,0.9885028,0.004883678,0.002692738,0.001648308,0.0000194654,0.0001130209,0.00008003206,0.001904287],"genre_scores_gemma":[0.001407665,0.9884056,0.00387997,0.00228971,0.002049725,0.00003383558,0.0002674912,0.00001760992,0.001648478],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003841534,"threshold_uncertainty_score":0.02031624,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02310649246872702,"score_gpt":0.2915641194583656,"score_spread":0.2684576269896385,"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."}}