{"id":"W2057548569","doi":"10.1007/s00439-007-0386-3","title":"High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor","year":2007,"lang":"en","type":"article","venue":"Human Genetics","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":76,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario; SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"National Institute of General Medical Sciences; National Institutes of Health; National Cancer Institute; National Institute for Health and Care Research","keywords":"Biology; Germline; Locus (genetics); Genetics; Fluorescence in situ hybridization; Chromosome 22; Germline mutation; Tumor suppressor gene; Single-nucleotide polymorphism; Cancer research; Chromosome; Gene; Mutation; Genotype; Carcinogenesis","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":[0.0001731897,0.0003327067,0.0002358977,0.0008806209,0.000483401,0.0003937131,0.000236035,0.0006363189,0.0009060295],"category_scores_gemma":[0.00104531,0.0002617996,0.0001351328,0.0004395227,0.0003179677,0.0001883524,0.0001510383,0.0003174794,0.0001378589],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002287975,"about_ca_system_score_gemma":0.0001537608,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001482524,"about_ca_topic_score_gemma":0.001527365,"domain_scores_codex":[0.9997758,0.00004048993,0.00002260677,0.00007278234,0.0000473377,0.00004099918],"domain_scores_gemma":[0.9996414,0.0001563738,0.0000745219,0.00001824006,0.00003241382,0.00007706513],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005799061,0.0001024963,0.9329706,0.00002074481,0.00005807276,0.02585188,0.0004974935,0.000343267,0.03363513,0.0001728316,0.0003731855,0.00539451],"study_design_scores_gemma":[0.00004557638,0.0002926821,0.9318017,0.000008334786,0.00009375159,0.05997319,0.0004113324,0.001129935,0.005285592,0.0002327924,0.0007052867,0.00001993028],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994032,0.00008847129,0.00007415227,0.00005245737,0.000003460044,0.000002246959,0.00004903798,0.000004720069,0.0003222662],"genre_scores_gemma":[0.9997973,0.00002120655,0.00004879481,0.00001785821,0.000005540226,0.00000164062,0.00002697896,0.000001512572,0.00007931706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001482524,"threshold_uncertainty_score":0.003030956,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006894095486681882,"score_gpt":0.2193369013914708,"score_spread":0.212442805904789,"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."}}