{"id":"W1939044377","doi":"10.1002/path.4225","title":"Familial rhabdoid tumour '<i>avant la lettre</i>'—from pathology review to exome sequencing and back again","year":2013,"lang":"en","type":"article","venue":"The Journal of Pathology","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital; McGill University Health Centre; McGill University; BC Cancer Agency; Montreal Children's Hospital; McGill University and Génome Québec Innovation Centre; Jewish General Hospital","funders":"Medical Research Council; Sparks; Canadian Institutes of Health Research; Susan G. Komen; Rivkin Center for Ovarian Cancer","keywords":"Exome sequencing; Biology; SMARCA4; Nonsense mutation; Pathology; Germline mutation; Teratoma; Exome; Context (archaeology); Sanger sequencing; Immature teratoma; Mutation; Germ cell tumors; Medicine; Epigenetics; Genetics; Chromatin remodeling; Gene","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":[0.0009151279,0.000158618,0.0003376607,0.00003611042,0.00005650328,0.00001316065,0.0002756008,0.0001312549,0.00009564731],"category_scores_gemma":[0.0002003555,0.0001050203,0.00009154526,0.00004664949,0.0001240299,0.000006554476,0.0001425997,0.0002368037,0.00006898892],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002284132,"about_ca_system_score_gemma":0.0001009213,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004095916,"about_ca_topic_score_gemma":0.00001695964,"domain_scores_codex":[0.9985175,0.0005075263,0.0004437006,0.0001853917,0.0001127729,0.0002330736],"domain_scores_gemma":[0.9991401,0.00007096838,0.0002567965,0.0002760645,0.0001473891,0.0001087197],"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":[0.00003601076,0.00001311626,0.00009785602,0.00004440791,0.00002183969,0.00009411167,0.0002171149,0.00007952946,0.9835621,0.000003826588,0.01066284,0.005167225],"study_design_scores_gemma":[0.0103457,0.01019962,0.03411824,0.006221297,0.001649777,0.1060108,0.00387848,0.001123839,0.5869546,0.007924761,0.2279616,0.00361132],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9759445,0.01907554,0.002040715,0.002025628,0.0002405372,0.0001647827,0.00001221358,0.000003977198,0.0004920866],"genre_scores_gemma":[0.9664009,0.02178715,0.003299919,0.007531127,0.0005612606,0.000008019796,0.00000946146,0.00002774137,0.000374432],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3966075,"threshold_uncertainty_score":0.4282605,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01540321709331258,"score_gpt":0.2586435574951964,"score_spread":0.2432403404018838,"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."}}