{"id":"W1980050623","doi":"10.1007/s00439-011-1073-y","title":"High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44","year":2011,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":147,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta; Credit Valley Hospital; Victoria General Hospital","funders":"","keywords":"Biology; Haploinsufficiency; Microcephaly; Genetics; Phenotype; Candidate gene; Comparative genomic hybridization; Corpus callosum; Corpus Callosum Agenesis; Gene; Microdeletion syndrome; Copy-number variation; Chromosomal region; Agenesis of the corpus callosum; Penetrance; Genome; Chromosome; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001339055,0.0006113659,0.0004216068,0.001270013,0.0004849094,0.0003689266,0.0002385267,0.0005988305,0.00151472],"category_scores_gemma":[0.0008251389,0.0002272881,0.0003040788,0.0007042909,0.0003563666,0.000170215,0.0002765571,0.0003623465,0.0001636016],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002135517,"about_ca_system_score_gemma":0.0002046413,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002258987,"about_ca_topic_score_gemma":0.00305107,"domain_scores_codex":[0.9997742,0.00003852671,0.0000209788,0.00006796709,0.0000565153,0.00004191998],"domain_scores_gemma":[0.9997993,0.0001046329,0.00004865726,0.000009885229,0.00001061272,0.00002699472],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001710164,0.0003083509,0.5604066,0.00007703481,0.000243603,0.02637611,0.001527136,0.001870759,0.3638923,0.0007330603,0.001688023,0.04116691],"study_design_scores_gemma":[0.00005161176,0.0002433487,0.9525368,0.00000960835,0.0001209096,0.0298784,0.0002304399,0.001414454,0.01431731,0.0002773461,0.0008998903,0.00001989422],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986828,0.0001274892,0.0003517662,0.00008722843,0.00000398094,0.00000828781,0.0001718477,0.00001557169,0.0005510962],"genre_scores_gemma":[0.9986598,0.00007652098,0.0006268685,0.00006269917,0.00001037107,0.0000140905,0.000233081,0.000009735586,0.0003068122],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002258987,"threshold_uncertainty_score":0.005067289,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01150363111671823,"score_gpt":0.2056278802416737,"score_spread":0.1941242491249555,"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."}}