{"id":"W2075619476","doi":"10.1016/j.ejmg.2010.08.005","title":"Mosaic microdeletion 18q21 as a cause of mental retardation","year":2010,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Microcephaly; Comparative genomic hybridization; Genetics; Mosaic; Biology; Copy-number variation; RefSeq; Gene; Microdeletion syndrome; Chromosome; Microarray; Genome; Medicine; Gene expression","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":[0.0008449887,0.00008624313,0.0001154691,0.00004094448,0.00003747186,0.00001425596,0.0003002421,0.00007011518,0.0002441474],"category_scores_gemma":[0.000174282,0.00007488531,0.00008821338,0.00004250964,0.00009752974,0.00000344335,0.00009088746,0.0002089002,0.00001421206],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005211218,"about_ca_system_score_gemma":0.0001647954,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003169352,"about_ca_topic_score_gemma":0.000007292801,"domain_scores_codex":[0.9987935,0.0001513594,0.0004615433,0.00009837031,0.0003837619,0.0001114449],"domain_scores_gemma":[0.9992348,0.000007596129,0.0002767801,0.0001693742,0.0001653495,0.0001461185],"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":[0.00008306665,0.0001356873,0.002533301,0.00001940668,0.0001148108,0.00004820877,0.0004007494,0.00003021749,0.9756544,0.0002008447,0.004218538,0.01656076],"study_design_scores_gemma":[0.002857889,0.002102686,0.01617192,0.0000963824,0.0001355143,0.002260535,0.0005412449,0.0001529255,0.6831019,0.0001871473,0.292052,0.0003398757],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965647,0.0003873988,0.00113007,0.0005671284,0.0005113641,0.00004167314,0.00001396745,0.000001892589,0.000781831],"genre_scores_gemma":[0.9960892,0.0007882804,0.002070028,0.0001711054,0.0006223475,2.651133e-7,0.00004556924,0.0000163928,0.0001968284],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2925525,"threshold_uncertainty_score":0.3053734,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008804272079251925,"score_gpt":0.2411416596278315,"score_spread":0.2323373875485796,"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."}}