{"id":"W3119557573","doi":"10.1186/s13148-020-00990-7","title":"DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome","year":2021,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Genome Canada","keywords":"Human genetics; DNA methylation; Genetics; Biology; DNA; Computational biology; Methylation; Signature (topology); 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":[0.000130029,0.0003750535,0.0002645444,0.0007370868,0.0002259397,0.0002341146,0.0002024886,0.0003448057,0.001356097],"category_scores_gemma":[0.0006427033,0.0001370266,0.0001586327,0.0004371288,0.0002352268,0.0001121791,0.0003720481,0.0002562826,0.0001115434],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001532972,"about_ca_system_score_gemma":0.0001108785,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001101475,"about_ca_topic_score_gemma":0.001268452,"domain_scores_codex":[0.9998282,0.00002452424,0.00001774064,0.00007001238,0.00003332959,0.00002609463],"domain_scores_gemma":[0.9996961,0.00006593851,0.0001391675,0.00001856893,0.00002533105,0.00005486174],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009977343,0.00005511491,0.870649,0.00004278752,0.0001337793,0.003066997,0.000310951,0.000172258,0.1160797,0.0001131526,0.0001546085,0.008223861],"study_design_scores_gemma":[0.00001136483,0.0001069898,0.987889,0.000003706051,0.00004330468,0.007546949,0.00008413627,0.0002328991,0.003827616,0.00007233307,0.0001767418,0.000005057674],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993284,0.0001012887,0.000196415,0.00001681013,0.000001050411,0.000006443892,0.0001538288,0.000005819701,0.0001900561],"genre_scores_gemma":[0.9994473,0.00003572131,0.0002111123,0.00001272111,0.000002173303,0.000005926395,0.0001811763,0.000002688646,0.0001011618],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001356097,"threshold_uncertainty_score":0.004536569,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02183015336801204,"score_gpt":0.3059574599896115,"score_spread":0.2841273066215995,"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."}}