{"id":"W2949062400","doi":"10.1038/s41467-018-08148-z","title":"Multi-platform discovery of haplotype-resolved structural variation in human genomes","year":2019,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genomics and Phylogenetic Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1040,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; BC Cancer Agency","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Cancer Institute; Wellcome Trust; National Human Genome Research Institute; National Health and Medical Research Council; Universiti Malaya; National Institute of Mental Health; National Institute of Allergy and Infectious Diseases; Medical Research Council; Ewha Womans University; European Molecular Biology Laboratory; National Natural Science Foundation of China; National Institutes of Health; National Science Foundation","keywords":"Indel; Structural variation; Genome; Haplotype; 1000 Genomes Project; Human genome; Computational biology; Biology; Reference genome; Genetics; DNA sequencing; Human genetic variation; Genomics; Copy-number variation; INDEL Mutation; Single-nucleotide polymorphism; Gene; Genotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002671731,0.0005848514,0.000842815,0.002651106,0.0005133012,0.001286819,0.0005903328,0.0007372305,0.001272282],"category_scores_gemma":[0.004151074,0.0004046726,0.00113914,0.00195792,0.0002841436,0.0006398152,0.001610328,0.000977607,0.0005638849],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003587676,"about_ca_system_score_gemma":0.000650487,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001847764,"about_ca_topic_score_gemma":0.006437773,"domain_scores_codex":[0.9985402,0.0003684814,0.00007494055,0.0006096122,0.0003130561,0.00009369043],"domain_scores_gemma":[0.9978358,0.001139358,0.000284889,0.0004198674,0.0001737159,0.0001464102],"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":[0.001442527,0.0003847826,0.2964301,0.001614246,0.004102864,0.001744817,0.0008428491,0.06907822,0.3594981,0.01003955,0.01577332,0.2390487],"study_design_scores_gemma":[0.0004374748,0.000710595,0.425584,0.0003276575,0.001449547,0.003269691,0.0005758899,0.3611788,0.1108885,0.04589022,0.04939779,0.0002897826],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8314146,0.004411656,0.1207576,0.0007925608,0.000205778,0.0001716211,0.03659812,0.002747112,0.002901029],"genre_scores_gemma":[0.7473121,0.00121521,0.1987469,0.0005109839,0.0001187055,0.0001643488,0.0502863,0.0004909609,0.001154493],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002671731,"threshold_uncertainty_score":0.01412964,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01735303859393572,"score_gpt":0.2869110409323235,"score_spread":0.2695580023383878,"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."}}