{"id":"W1982966806","doi":"10.1038/ejhg.2009.174","title":"Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12","year":2009,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":148,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; National Institutes of Health; Osteogenesis Imperfecta Foundation","keywords":"Gene duplication; Biology; Chromosome; Disease; Genetics; Copy-number variation; Comparative genomic hybridization; Phenotype; Gene; Epilepsy; Diabetes mellitus; Internal medicine; Medicine; Genome; Endocrinology; Neuroscience","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008810962,0.0001536718,0.0002247839,0.00008272655,0.00006805079,0.00003743094,0.0003130985,0.00004397647,0.00003832673],"category_scores_gemma":[0.00003356205,0.0001333265,0.0001112506,0.0000736004,0.00005879765,0.000005041187,0.00005422023,0.0002149476,0.000009706257],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003757904,"about_ca_system_score_gemma":0.00006979181,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":6.080312e-7,"about_ca_topic_score_gemma":0.00002080982,"domain_scores_codex":[0.9983042,0.0003840346,0.0007278838,0.0001855921,0.0001621805,0.0002360819],"domain_scores_gemma":[0.9991288,0.000007288499,0.0004400525,0.000227232,0.00009258933,0.000103992],"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":[0.001166201,0.003591691,0.4171226,0.00004181137,0.001117585,0.001501368,0.002107688,0.002711129,0.5329928,0.0004212908,0.009259592,0.02796622],"study_design_scores_gemma":[0.002699983,0.007125719,0.9800578,0.00009723178,0.00005811381,0.00009269591,0.0001147181,0.00001044469,0.003311548,0.0001461865,0.006009808,0.0002757016],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960634,0.0008057075,0.00009714667,0.0001123761,0.0001613207,0.00008315215,0.00000769845,0.000003980679,0.002665189],"genre_scores_gemma":[0.9980205,0.0003643959,0.0005243727,0.000162437,0.0005567516,3.084577e-7,0.00002889154,0.00002495166,0.0003174219],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5629352,"threshold_uncertainty_score":0.5436895,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02165373236254987,"score_gpt":0.269432985006212,"score_spread":0.2477792526436622,"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."}}