{"id":"W4366525930","doi":"10.1016/j.xhgg.2023.100198","title":"De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institute on Deafness and Other Communication Disorders; National Human Genome Research Institute; Genome Alberta; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Research Foundation; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Ontario Genomics Institute","keywords":"Chromatin remodeling; Biology; Chromatin; Genetics; Histone; Nucleosome; Epigenetics; Neurodevelopmental disorder; Histone deacetylase; Cell biology; Gene","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":[0.0001962305,0.0009132304,0.000301297,0.001323305,0.0008652032,0.0003384052,0.0003524994,0.0008048138,0.002261539],"category_scores_gemma":[0.0009968081,0.0002470385,0.0003130799,0.0006100066,0.0005139477,0.0002161789,0.0005172638,0.0004699924,0.0001993448],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003444287,"about_ca_system_score_gemma":0.0002876916,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004767193,"about_ca_topic_score_gemma":0.004773992,"domain_scores_codex":[0.9996338,0.00003163832,0.00004288825,0.0001582653,0.00009156547,0.00004186172],"domain_scores_gemma":[0.9997199,0.0000853766,0.00006614174,0.00001596032,0.00003127588,0.00008139291],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000648258,0.0002645662,0.7041202,0.0000782565,0.000165113,0.2017098,0.002032154,0.0006244634,0.07405895,0.001319251,0.001056164,0.01392278],"study_design_scores_gemma":[0.00006624388,0.0004640395,0.6438379,0.00006055256,0.0002407098,0.3332718,0.0007381241,0.00117484,0.01621008,0.0008102786,0.003073182,0.00005222237],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970092,0.0002168516,0.0008703622,0.0001466416,0.00002728787,0.00002692118,0.0003324584,0.00002288129,0.001347411],"genre_scores_gemma":[0.9988668,0.00008121804,0.0005356264,0.0000576265,0.00001244551,0.000006725578,0.00009896936,0.000005249848,0.000335295],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004767193,"threshold_uncertainty_score":0.009478867,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00726656248751092,"score_gpt":0.2324012903786926,"score_spread":0.2251347278911816,"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."}}