{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006864357,0.0002178086,0.0005084625,0.00002310422,0.00008673515,0.00003530892,0.0001797105,0.0004467304,0.000069834],"category_scores_gemma":[0.001172496,0.0001932783,0.0002139625,0.0001437385,0.0003390983,0.000005657269,0.0001755189,0.0002854205,0.000005172088],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009356559,"about_ca_system_score_gemma":0.0002816294,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009185844,"about_ca_topic_score_gemma":0.00009195665,"domain_scores_codex":[0.9975303,0.0004620691,0.0009755563,0.0005654999,0.0002087542,0.0002577855],"domain_scores_gemma":[0.9982271,0.0003133301,0.0003728949,0.0004807764,0.0004310936,0.0001747576],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005142294,0.001597389,0.9387009,0.0001132824,0.001907532,0.0001969456,0.0001953387,0.0002079772,0.03804918,0.001729718,0.0005571189,0.01623035],"study_design_scores_gemma":[0.003647106,0.002376453,0.9358953,0.000104677,0.0005270654,0.00007526336,0.000119239,0.0003724097,0.04918284,0.00290017,0.004128205,0.0006712839],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911452,0.001665228,0.005955148,0.0002890922,0.0001921348,0.0001482889,0.000125355,0.00001281056,0.0004667496],"genre_scores_gemma":[0.9942782,0.0005681725,0.003638397,0.0005214804,0.000159992,0.000006736098,0.0002906317,0.00003309552,0.0005032848],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01555907,"threshold_uncertainty_score":0.7881659,"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."}}