{"id":"W2147706645","doi":"10.1038/onc.2014.150","title":"Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences","year":2014,"lang":"en","type":"article","venue":"Oncogene","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":175,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Cancer Institute; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; Instituto Carlos Slim de la Salud; Broad Institute","keywords":"Biology; Germline; Exome sequencing; microRNA; Loss function; Genetics; Somatic cell; Germline mutation; Cancer research; Neuroblastoma RAS viral oncogene homolog; Mutation; Missense mutation; Gene; KRAS; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009971586,0.0002023736,0.0001597746,0.0005703562,0.0002346167,0.000176832,0.0001307947,0.0004030168,0.001413234],"category_scores_gemma":[0.0004265966,0.00009666582,0.0001486017,0.0002455464,0.0001714386,0.0001158126,0.0002083266,0.0001762285,0.0002112389],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001521227,"about_ca_system_score_gemma":0.00007956399,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004269278,"about_ca_topic_score_gemma":0.001099498,"domain_scores_codex":[0.9998915,0.000009708007,0.00001369008,0.00003114741,0.00003567671,0.00001828105],"domain_scores_gemma":[0.9998565,0.00005638246,0.00002925067,0.00001464202,0.00001504599,0.00002827005],"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":[0.0005642751,0.00005776545,0.08427498,0.0001009593,0.00006840454,0.05516998,0.0004925817,0.0003947198,0.8408722,0.0002031313,0.0003476096,0.0174535],"study_design_scores_gemma":[0.00003693388,0.0004167571,0.5149502,0.0000226555,0.0001008791,0.2196001,0.0003648277,0.002909471,0.2573644,0.0002494404,0.00396458,0.00001970267],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980037,0.0001280448,0.000971165,0.0000376665,0.000003651826,0.00001195156,0.0003927085,0.00001859883,0.0004324544],"genre_scores_gemma":[0.997372,0.00008856683,0.001389549,0.00003296516,0.000002243973,0.000008759684,0.0005671616,0.000004905819,0.000533885],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001413234,"threshold_uncertainty_score":0.004727721,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03299916872278452,"score_gpt":0.2852727424910365,"score_spread":0.252273573768252,"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."}}