{"id":"W2997006778","doi":"10.1093/hmg/ddz166","title":"Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins","year":2019,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Fondation Jérôme Lejeune; KU Leuven; Fonds Wetenschappelijk Onderzoek","keywords":"Biology; Genetics; Breakpoint; Non-allelic homologous recombination; Homologous chromosome; Homologous recombination; Chromosomal inversion; Allele; Chromosome; Chromosome 22; Genome; Recombination; Gene; Genetic recombination; Karyotype","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":[0.0002488946,0.0005893919,0.0004646143,0.001208651,0.0002313001,0.0003851808,0.0003066711,0.0003616647,0.002010519],"category_scores_gemma":[0.0008546803,0.000252301,0.0002734082,0.0009174598,0.0004621278,0.0003091664,0.0004986944,0.0002648162,0.0003527159],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002096011,"about_ca_system_score_gemma":0.0001299359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006525916,"about_ca_topic_score_gemma":0.001021255,"domain_scores_codex":[0.9996936,0.00004317131,0.00003103676,0.0001090668,0.00007898111,0.00004415608],"domain_scores_gemma":[0.9995248,0.0001064291,0.0002180345,0.00005553513,0.00004835737,0.00004682274],"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":[0.0009726559,0.00007626643,0.3713085,0.0003521359,0.0004000861,0.01187193,0.0008689553,0.001390303,0.5527034,0.002333869,0.000570677,0.05715118],"study_design_scores_gemma":[0.00006935282,0.0003057872,0.8789104,0.00006784195,0.0002156208,0.05710247,0.0003866325,0.0007929233,0.04965947,0.002270129,0.01016564,0.00005377473],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937629,0.001767327,0.002591734,0.00005986972,0.000006551001,0.00003239502,0.000435533,0.00008865808,0.001255007],"genre_scores_gemma":[0.996479,0.0009225591,0.001389212,0.00004145524,0.00001592656,0.00002552822,0.0004986582,0.00002024929,0.0006073287],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002010519,"threshold_uncertainty_score":0.006725848,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02683031406192284,"score_gpt":0.3054926612178697,"score_spread":0.2786623471559468,"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."}}