{"id":"W2947003039","doi":"10.1111/bjh.15994","title":"Large deletions of the 5′ region of <i><scp>IKZF</scp>1</i> lead to haploinsufficiency in B‐cell precursor acute lymphoblastic leukaemia","year":2019,"lang":"en","type":"letter","venue":"British Journal of Haematology","topic":"Acute Lymphoblastic Leukemia research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institut National Du Cancer; Ligue Contre le Cancer; Institute of Cancer Research; Université de Strasbourg; Agence Nationale de la Recherche","keywords":"Multiplex ligation-dependent probe amplification; Exon; Haploinsufficiency; Breakpoint; Biology; Genetics; Molecular biology; Locus (genetics); Gene; Chromosomal translocation; Phenotype","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":["research_integrity"],"category_scores_codex":[0.00066261,0.0004505309,0.002548346,0.001012916,0.0000811404,0.00002939754,0.001358383,0.001305521,0.00003551786],"category_scores_gemma":[0.002806001,0.0003958183,0.0007278341,0.00104561,0.0005274255,0.0001305827,0.0004335355,0.002983245,0.00006351848],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008249113,"about_ca_system_score_gemma":0.003852748,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001459486,"about_ca_topic_score_gemma":0.00008264366,"domain_scores_codex":[0.9940755,0.0005868304,0.002245973,0.000538971,0.001453096,0.001099567],"domain_scores_gemma":[0.9940421,0.001822417,0.001950227,0.000803959,0.001199278,0.0001819911],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"case_report","study_design_scores_codex":[0.0001411059,0.0005598473,0.0009418676,0.001747278,0.0002806953,0.05454955,0.000484942,0.00006022227,0.001813974,0.00003856421,0.9391775,0.0002045269],"study_design_scores_gemma":[0.01397752,0.002825974,0.002131246,0.01402288,0.001499747,0.7509617,0.0004907622,0.0004062786,0.008567933,0.0003122679,0.2044015,0.0004022379],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.923646,0.004154281,0.003800609,0.06181187,0.001765048,0.001782698,0.0003120871,0.00002403164,0.002703365],"genre_scores_gemma":[0.8565286,0.002678111,0.001697845,0.1266484,0.001637736,0.00006898998,0.00009760251,0.000359913,0.0102829],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.734776,"threshold_uncertainty_score":0.999991,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01334823704894283,"score_gpt":0.2596701559756887,"score_spread":0.2463219189267459,"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."}}