{"id":"W2560391173","doi":"10.1038/srep38803","title":"The defining DNA methylation signature of Floating-Harbor Syndrome","year":2016,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute; McMaster University; London Health Sciences Centre; Lawson Health Research Institute; B.C. Women's Hospital & Health Centre; Western University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"University of Toronto; McGill University; Canadian Institutes of Health Research; University of Ottawa","keywords":"DNA methylation; Signature (topology); Methylation; Computational biology; Computer science; DNA; Biology; Bioinformatics; Genetics; Gene; Mathematics; 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":[0.0005924411,0.00006627043,0.00006959282,0.00002543266,0.0002023595,0.00005115198,0.00008505715,0.00005671893,0.00001925446],"category_scores_gemma":[0.0002374031,0.0000354828,0.00006941569,0.00008688605,0.0001695082,0.00000502869,0.00006335897,0.00002460731,0.000004820159],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003947422,"about_ca_system_score_gemma":0.00006189766,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":5.38494e-7,"about_ca_topic_score_gemma":0.000009653786,"domain_scores_codex":[0.9991915,0.00002444343,0.0002212686,0.0002706891,0.0001546526,0.0001374913],"domain_scores_gemma":[0.999288,0.00002452978,0.0001617834,0.000384539,0.0001082916,0.0000329142],"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":[0.00000632188,0.000007359342,0.001116993,0.000004098202,0.00001402906,0.00001152924,0.00001898075,9.335242e-7,0.9858497,0.0002160268,0.0004302586,0.01232372],"study_design_scores_gemma":[0.0000798628,0.00006340088,0.002637893,0.00002469566,0.00001115702,0.00006785833,0.00003897484,0.000002445619,0.891162,0.001450453,0.1043675,0.00009383334],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942353,0.001250267,0.0001620829,0.000117063,0.001352977,0.00007295491,0.000004874536,0.000007676927,0.002796795],"genre_scores_gemma":[0.9889491,0.00001264952,0.000114693,0.000007389997,0.00003481266,0.000003993509,0.00001615893,0.00000635639,0.01085485],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1039372,"threshold_uncertainty_score":0.1556406,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006114505246898927,"score_gpt":0.2187781234080186,"score_spread":0.2126636181611196,"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."}}