{"id":"W4224232302","doi":"10.1016/j.braindev.2022.04.004","title":"Cerebral white matter abnormalities associated with chromosome 18q duplication","year":2022,"lang":"en","type":"article","venue":"Brain and Development","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital; McGill University Health Centre","funders":"Fonds de Recherche du Québec - Santé; McGill University Health Centre","keywords":"Hypotonia; White matter; Hypertelorism; Gene duplication; Haploinsufficiency; Trisomy; Chromosome 18; Biology; Anatomy; Medicine; Genetics; Chromosome; Phenotype; Magnetic resonance imaging; Radiology","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":[0.0001576735,0.0001115869,0.00008756152,0.00003397989,0.0003462002,0.00003384178,0.00008622891,0.00003488516,0.000467127],"category_scores_gemma":[0.00000690837,0.0001040873,0.00001678205,0.00005422479,0.00003524067,0.000005252996,0.0001638544,0.00005607714,0.00001104346],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004157843,"about_ca_system_score_gemma":0.0001299855,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000804494,"about_ca_topic_score_gemma":0.0000298835,"domain_scores_codex":[0.9992734,0.00004944432,0.0001543496,0.0002170958,0.0001239896,0.0001817777],"domain_scores_gemma":[0.9997213,0.000008123359,0.00006609244,0.0001255159,0.00003234026,0.00004666913],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002110517,0.0003489409,0.9256586,0.00007583317,0.0004520431,0.00001345439,0.007958177,0.0005295847,0.01000651,0.001452584,0.05148195,0.001811259],"study_design_scores_gemma":[0.001062952,0.0002432764,0.7257237,0.00001080163,0.00001083835,0.0001055443,0.001859823,0.00001833587,0.006750396,0.00006435583,0.2637005,0.0004494659],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961715,0.0001127905,0.000244816,0.0009716734,0.00004866894,0.0001320692,0.00003594146,0.00001512404,0.002267383],"genre_scores_gemma":[0.9844592,0.000005158747,0.0007192899,0.001759954,0.00003723606,0.0001441704,0.0006111228,0.00001456223,0.01224929],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2122185,"threshold_uncertainty_score":0.5114714,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007067949504056537,"score_gpt":0.1897784663508482,"score_spread":0.1827105168467916,"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."}}