{"id":"W4286209131","doi":"10.3390/ijms23148001","title":"DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome","year":2022,"lang":"en","type":"article","venue":"International Journal of Molecular Sciences","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Trillium Health Centre; University of Toronto; London Health Sciences Centre; Western University","funders":"","keywords":"DNA methylation; Hypotonia; Medicine; Genetics; Epigenetics; Clinical significance; Biomarker; Bioinformatics; Biology; Pediatrics; Pathology; Gene","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":[0.0001508842,0.0002318606,0.0002362279,0.0005920107,0.0001314928,0.000186942,0.0001339831,0.0002334401,0.001181099],"category_scores_gemma":[0.0006756213,0.00008729364,0.0001319564,0.00027844,0.0001323127,0.00006511442,0.0001844128,0.0001761331,0.0001758891],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001428184,"about_ca_system_score_gemma":0.00008514856,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000940093,"about_ca_topic_score_gemma":0.001259785,"domain_scores_codex":[0.9998378,0.0000363504,0.00001293259,0.00006090762,0.00003488453,0.00001707005],"domain_scores_gemma":[0.9997842,0.00006451423,0.00008243314,0.00001705832,0.00002191583,0.00002990304],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00124642,0.00004868028,0.3184313,0.00009619494,0.0001398826,0.0008703747,0.0002343417,0.001068003,0.6587731,0.0002503289,0.0002017676,0.01863969],"study_design_scores_gemma":[0.00003684072,0.0004329993,0.9117325,0.0000179136,0.00009967355,0.005609681,0.0001440956,0.0103594,0.06959295,0.0007858669,0.001167987,0.00002009913],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966028,0.0002978201,0.002153758,0.00002361303,0.00000314582,0.00001189252,0.0005589469,0.00003350029,0.0003145592],"genre_scores_gemma":[0.9986671,0.00004175465,0.000790289,0.00001022121,0.000001616805,0.00000591855,0.0003587023,0.000003360763,0.0001210074],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001181099,"threshold_uncertainty_score":0.003951132,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01368184145364325,"score_gpt":0.2865665888740453,"score_spread":0.272884747420402,"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."}}