{"id":"W4389230190","doi":"10.1182/blood-2023-186456","title":"Integrative Genome and Transcriptome Sequencing Analysis Indicates Genetic and Epigenetic Dysregulation in DS-AML","year":2023,"lang":"en","type":"article","venue":"Blood","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Exon; Biology; Genetics; Exome sequencing; GATA1; Single molecule real time sequencing; Whole genome sequencing; Mutation; DNA sequencing; Genome; Gene; Transcription factor","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":[0.0001369308,0.0001581666,0.0002000211,0.0004743031,0.0001244179,0.0002035261,0.0001003565,0.0001664695,0.0009842466],"category_scores_gemma":[0.0001991174,0.0000827305,0.0002192854,0.0003513895,0.0001055332,0.00006847287,0.0001906738,0.0001751099,0.0002062177],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001203172,"about_ca_system_score_gemma":0.00010392,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005146298,"about_ca_topic_score_gemma":0.001085992,"domain_scores_codex":[0.9998831,0.00001212177,0.000007719112,0.0000445491,0.00003600097,0.00001654449],"domain_scores_gemma":[0.9999391,0.00001509469,0.00001712009,0.000008393003,0.000008816719,0.00001148623],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002115231,0.00002153858,0.02902703,0.00005371902,0.00004328791,0.0005885581,0.0001294259,0.0005469097,0.9561614,0.0002442361,0.0001594424,0.01281283],"study_design_scores_gemma":[0.00002980032,0.0002301546,0.7771347,0.00002255637,0.000199612,0.005626436,0.0002725436,0.008852285,0.1990329,0.0007893422,0.00778954,0.00002011301],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931287,0.0003990573,0.00381892,0.00004235707,0.00000545042,0.00001164477,0.001705446,0.00007068354,0.0008178766],"genre_scores_gemma":[0.9898217,0.0003640161,0.005277309,0.0000705351,0.000006107079,0.00001913148,0.003803754,0.00002699938,0.0006104074],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009842466,"threshold_uncertainty_score":0.00329262,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01114732840584547,"score_gpt":0.2408999438110716,"score_spread":0.2297526154052261,"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."}}