{"id":"W2986189881","doi":"10.1186/s13148-019-0749-3","title":"A genome-wide DNA methylation signature for SETD1B-related syndrome","year":2019,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; University of British Columbia; Western University","funders":"","keywords":"Epigenetics; Genetics; Biology; DNA methylation; Human genetics; Gene; Histone; Histone methyltransferase; Missense mutation; Chromatin; Methyltransferase; Computational biology; Methylation; Gene expression; Mutation","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":[0.0001023964,0.0003935004,0.0002157194,0.0008456854,0.000285787,0.0002377214,0.0002466953,0.0004751264,0.002044338],"category_scores_gemma":[0.0005855731,0.0001017089,0.0001825655,0.0003085751,0.0002502915,0.0001015817,0.0003819508,0.0003080119,0.0001735134],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001752757,"about_ca_system_score_gemma":0.0001348808,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001382453,"about_ca_topic_score_gemma":0.001540178,"domain_scores_codex":[0.9998664,0.00001271136,0.00001391867,0.00004878813,0.00003949246,0.00001873611],"domain_scores_gemma":[0.999831,0.0000478359,0.00003701915,0.00001176361,0.00001753629,0.00005482943],"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":[0.0004671896,0.00007556615,0.231925,0.0001055508,0.00008343433,0.05783395,0.0008045606,0.0005491647,0.6845839,0.0005462425,0.0004995525,0.02252584],"study_design_scores_gemma":[0.00003967806,0.0004270992,0.6044567,0.00002641932,0.0001235172,0.2877739,0.0003607362,0.002738642,0.1005348,0.0004113803,0.00307131,0.00003591746],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967782,0.0002377274,0.001469495,0.0001071643,0.00001019501,0.00002349922,0.0004139907,0.0000471435,0.0009125337],"genre_scores_gemma":[0.9986079,0.00009373754,0.0007149401,0.0000403479,0.000004421027,0.00000810328,0.0001934776,0.000009352177,0.0003277245],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002044338,"threshold_uncertainty_score":0.006839037,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01778535818405212,"score_gpt":0.2955901367086984,"score_spread":0.2778047785246463,"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."}}