{"id":"W2734886065","doi":"10.1093/bioinformatics/btx254","title":"Discovery and genotyping of novel sequence insertions in many sequenced individuals","year":2017,"lang":"en","type":"article","venue":"Bioinformatics","topic":"Genomics and Phylogenetic Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Simon Fraser University","funders":"Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; European Molecular Biology Organization","keywords":"Structural variation; Sequence assembly; Sequence (biology); Reference genome; Genome; Computational biology; Breakpoint; Computer science; Genotyping; Biology; Zygosity; Hybrid genome assembly; DNA sequencing; Genetics; Whole genome sequencing; Algorithm; Genotype; Gene","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":[0.003882785,0.0006032611,0.0008300538,0.001189796,0.0006740373,0.0009196273,0.0011268,0.001310022,0.0008097725],"category_scores_gemma":[0.007426394,0.0004386185,0.0009340299,0.001140448,0.0007212771,0.00076497,0.001169244,0.0009200962,0.0004629353],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004391048,"about_ca_system_score_gemma":0.0004820134,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001120991,"about_ca_topic_score_gemma":0.002170083,"domain_scores_codex":[0.9968063,0.0007586762,0.0001884914,0.001449982,0.0006554528,0.0001411784],"domain_scores_gemma":[0.9943765,0.002801706,0.001164932,0.0008624906,0.0005211697,0.0002731484],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001516374,0.0007065532,0.4375492,0.0007437523,0.001182053,0.001326788,0.0005926652,0.123307,0.2845665,0.005386555,0.001552153,0.1415704],"study_design_scores_gemma":[0.0001261003,0.000996003,0.1146802,0.0001167035,0.0003596015,0.002498886,0.0003213793,0.6702757,0.1960799,0.008436041,0.005951539,0.0001580404],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8065082,0.0005998168,0.1879454,0.0001616704,0.00006803646,0.0001460863,0.002123338,0.001318536,0.001128892],"genre_scores_gemma":[0.740389,0.0001516231,0.2554908,0.0001525114,0.00002503236,0.00009575078,0.002942463,0.00009580512,0.0006568581],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003882785,"threshold_uncertainty_score":0.02053434,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04019711173590731,"score_gpt":0.2830124640901386,"score_spread":0.2428153523542313,"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."}}