{"id":"W4206389064","doi":"10.1038/s41431-021-01018-1","title":"Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711","year":2022,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"London Health Sciences Centre; Western University","funders":"National Institutes of Health; Greenwood Genetic Center Foundation; Wellcome Trust; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Genome Canada","keywords":"Gene; Methylation; DNA methylation; Chromosome; Autism; Pathogenicity; Human genetics; Craniofacial","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002021499,0.00147582,0.0004011103,0.001532835,0.0007136185,0.0003531981,0.0004296946,0.0007240394,0.00297234],"category_scores_gemma":[0.001046862,0.0002804211,0.0003435021,0.0007920435,0.0007484294,0.0002766816,0.0004054317,0.00035008,0.0004189502],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003042725,"about_ca_system_score_gemma":0.0003341378,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003180131,"about_ca_topic_score_gemma":0.002769796,"domain_scores_codex":[0.9997771,0.00002467081,0.00002847332,0.00007406691,0.00004769367,0.00004799609],"domain_scores_gemma":[0.9994859,0.0001036306,0.0001754773,0.00002508831,0.00005427159,0.0001557337],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001973182,0.0001628061,0.3961044,0.0001789805,0.0002211278,0.4528976,0.001384764,0.0004597045,0.133847,0.000459968,0.001436836,0.0108737],"study_design_scores_gemma":[0.0000458683,0.0003180247,0.5414874,0.00003592657,0.0002297062,0.4457553,0.0005613409,0.0004926841,0.009086996,0.0003115298,0.001634508,0.00004075636],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960913,0.000282237,0.0003558277,0.0001794945,0.0000166263,0.0000185312,0.0003649441,0.00003716049,0.002653874],"genre_scores_gemma":[0.9987537,0.0001276392,0.0002155576,0.00006476978,0.00001760782,0.00000574287,0.0001644679,0.00001084434,0.0006396602],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003180131,"threshold_uncertainty_score":0.009943426,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01796526552318281,"score_gpt":0.2728128933451698,"score_spread":0.254847627821987,"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."}}