{"id":"W2962212851","doi":"10.1186/s12920-019-0555-y","title":"New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome","year":2019,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; Holland Bloorview Kids Rehabilitation Hospital; University of Toronto; SickKids Foundation; North York General Hospital; McMaster University; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Ontario Genomics; Ontario Brain Institute; Genome Canada","keywords":"DNA methylation; Human genetics; Genetics; Biology; Computational biology; DNA microarray; Methylation; Epigenetics; Bioinformatics; DNA; Gene; Gene expression","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":[0.0003233981,0.000158402,0.0002156923,0.00005923379,0.00002979251,0.00001873931,0.0002899868,0.000421741,0.0002704746],"category_scores_gemma":[0.0002329814,0.000144866,0.00008069595,0.0001144651,0.00002788739,0.000005098045,0.0001231995,0.0002012325,0.00008740927],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007127583,"about_ca_system_score_gemma":0.0009962366,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001081863,"about_ca_topic_score_gemma":0.0006140432,"domain_scores_codex":[0.9986665,0.00009101385,0.0003266951,0.0004060183,0.0002816167,0.0002281208],"domain_scores_gemma":[0.9992809,0.00005589649,0.00007403042,0.0003448245,0.00003079766,0.0002135748],"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":[0.0003633053,0.0001651173,0.00465374,0.0002867279,0.0001218753,0.00003645357,0.0007940408,0.008703085,0.9481216,0.0006540481,0.002958115,0.0331419],"study_design_scores_gemma":[0.03201463,0.003527431,0.1460554,0.001820763,0.0002557457,0.0004197617,0.001117279,0.195496,0.3311965,0.02584149,0.2565203,0.005734552],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.981451,0.002290816,0.01483738,0.00007516907,0.0003892753,0.0002219519,0.000001770297,0.00001359745,0.0007190793],"genre_scores_gemma":[0.9928954,0.0003484335,0.005051876,0.0005233382,0.0002699912,0.000008650246,0.00008593421,0.00002836484,0.0007880152],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6169251,"threshold_uncertainty_score":0.5907465,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00850540222589478,"score_gpt":0.2486571937071429,"score_spread":0.2401517914812481,"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."}}