{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001707213,0.0002141508,0.0001872948,0.0005302004,0.0005088373,0.0002929907,0.0001860761,0.0003971537,0.001037434],"category_scores_gemma":[0.0008616918,0.0001585172,0.0001566137,0.000323858,0.0004679666,0.0002194483,0.0002751201,0.0002918087,0.0002333427],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002695018,"about_ca_system_score_gemma":0.0002311269,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001978513,"about_ca_topic_score_gemma":0.002652596,"domain_scores_codex":[0.9998307,0.00002722705,0.00002570139,0.00004553558,0.00003635426,0.00003439892],"domain_scores_gemma":[0.9996555,0.0001057606,0.0001161472,0.00001837393,0.00002870234,0.00007543377],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002421147,0.00003224895,0.8580698,0.00003212466,0.00002347112,0.1099,0.000509152,0.0003627917,0.0220278,0.000203911,0.0002448115,0.008351709],"study_design_scores_gemma":[0.00002437301,0.0002964071,0.610216,0.00004920413,0.00006020171,0.3782398,0.0006901443,0.0008002767,0.007560317,0.0003975166,0.001639177,0.00002663805],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985263,0.0002468147,0.0001872763,0.00003620314,0.000005663302,0.000004526211,0.00004878579,0.000007283623,0.0009370714],"genre_scores_gemma":[0.9995607,0.00009057703,0.0001732216,0.00001587243,0.00000530998,0.000001694639,0.00003450753,0.000001956632,0.0001161381],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001978513,"threshold_uncertainty_score":0.003934026,"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."}}