{"id":"W4321489383","doi":"10.1136/jmg-2022-108854","title":"Germline pathogenic <i>SMARCA4</i> variants in neuroblastoma","year":2023,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Neuroblastoma Research and Treatments","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; McGill University; McGill University Health Centre","funders":"National Human Genome Research Institute; National Institutes of Health; National Health and Medical Research Council; Australian Genomics Health Alliance; Australian Government; Canadian Institutes of Health Research; QIMR Berghofer Medical Research Institute","keywords":"Germline; SMARCA4; Neuroblastoma; Genetics; Biology; Computational biology; Medicine; Gene; Epigenetics","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008993829,0.0001339713,0.0003799625,0.0004346637,0.00002653677,0.00001501183,0.0002631933,0.0001394085,0.0002910739],"category_scores_gemma":[0.0009606584,0.00009941157,0.0001556322,0.0007488663,0.00008294863,0.00003653123,0.0001259768,0.0006955211,0.0001604997],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000498651,"about_ca_system_score_gemma":0.0005895243,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002884341,"about_ca_topic_score_gemma":0.000009997732,"domain_scores_codex":[0.9966059,0.0001255317,0.0006396836,0.000160237,0.002038503,0.000430145],"domain_scores_gemma":[0.9985021,0.000203092,0.000141727,0.0002050034,0.0001360697,0.0008120436],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.004016424,0.00549462,0.1543303,0.0006505175,0.0008177671,0.2837864,0.000632824,0.0003148362,0.1705629,0.000115226,0.05582039,0.3234578],"study_design_scores_gemma":[0.01704278,0.005586156,0.9341186,0.0008171074,0.0001544027,0.01055865,0.00008351158,0.005055703,0.005520074,0.0004936045,0.02032502,0.0002443423],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9918606,0.0003970832,0.00006933651,0.006913634,0.0003544112,0.0001387128,0.000005017971,0.00002059627,0.0002405787],"genre_scores_gemma":[0.9934892,0.00417901,0.0005255755,0.0009130479,0.0004792936,0.000003187398,0.000004527758,0.00003347683,0.0003726899],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7797884,"threshold_uncertainty_score":0.4053886,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02893705739444753,"score_gpt":0.340499121766792,"score_spread":0.3115620643723445,"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."}}