{"id":"W2947363345","doi":"10.1186/s13148-019-0658-5","title":"Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome","year":2019,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":128,"is_retracted":false,"has_abstract":true,"ca_institutions":"Victoria Hospital; London Health Sciences Centre; Western University","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Children's Health Foundation; McMaster University; Children's Health Research Institute","keywords":"Genetics; Biology; DNA methylation; Gene; Human genetics; OMIM : Online Mendelian Inheritance in Man; Chromatin; Methylation; Bioinformatics; Gene expression; Phenotype","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":[0.0006750173,0.0002264494,0.0004345484,0.00008463821,0.00004876173,0.00002286916,0.0004435056,0.0003708932,0.0003137496],"category_scores_gemma":[0.0002772543,0.0002238502,0.0003115236,0.0001837507,0.0003181689,0.000004052184,0.0002871296,0.000237814,0.00009432412],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001720135,"about_ca_system_score_gemma":0.00009811771,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001108342,"about_ca_topic_score_gemma":0.000013536,"domain_scores_codex":[0.9975564,0.0003690202,0.0007116679,0.0006293482,0.0003782111,0.0003553347],"domain_scores_gemma":[0.9983148,0.0002102461,0.0002150492,0.0008265488,0.0002914472,0.0001418826],"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":[0.0001998614,0.0003110945,0.06062369,0.00007763059,0.0002354164,0.00003395805,0.00003579649,0.0001485299,0.9311075,0.002207267,0.0005088794,0.004510414],"study_design_scores_gemma":[0.001403002,0.001577161,0.231984,0.00003438119,0.00003541522,0.00001089221,0.0000724157,0.00002843902,0.683979,0.004265614,0.07615311,0.0004564941],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9816409,0.008347482,0.007871909,0.0001619296,0.0004102671,0.0004643762,0.0000423361,0.00001370088,0.001047137],"genre_scores_gemma":[0.9950776,0.001694229,0.002234833,0.00006129276,0.0001119223,0.00001683402,0.0002006999,0.00004801713,0.0005545445],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2471284,"threshold_uncertainty_score":0.9128346,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02269880302682404,"score_gpt":0.3296962994632304,"score_spread":0.3069974964364064,"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."}}