{"id":"W2803978842","doi":"10.1186/s13148-018-0453-8","title":"Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C","year":2018,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":70,"is_retracted":false,"has_abstract":true,"ca_institutions":"Victoria Hospital; McMaster University; London Health Sciences Centre; Western University","funders":"Children's Health Foundation; London Health Sciences Centre; Children's Health Research Institute","keywords":"DNA methylation; Genetics; Biology; Human genetics; Epigenetics; Histone; Bioinformatics; 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":[0.0002006101,0.0001120981,0.0002314596,0.00004062139,0.00004662391,0.000009004444,0.00006452919,0.0001640384,0.000002560461],"category_scores_gemma":[0.0001166378,0.0001005208,0.00004958374,0.00008367772,0.0005568991,0.000002856347,0.00005379309,0.00007756815,3.308893e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005065771,"about_ca_system_score_gemma":0.00009781414,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009080255,"about_ca_topic_score_gemma":0.00005585742,"domain_scores_codex":[0.9988185,0.0001123355,0.0005156402,0.0003228403,0.00008960205,0.0001411417],"domain_scores_gemma":[0.9991596,0.00004847888,0.0002307863,0.0002063451,0.0002468651,0.0001079087],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001343302,0.001264657,0.796805,0.0002448584,0.0003586234,0.00004369813,0.001134274,0.0001794579,0.1895048,0.0001519736,0.00009904783,0.00887029],"study_design_scores_gemma":[0.001387209,0.002238892,0.9802732,0.00002698986,0.00007923914,0.00001355681,0.0002928225,0.00006641382,0.01508764,0.0001552363,0.0002200797,0.0001586534],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977713,0.001478273,0.0001603734,0.00003138483,0.000077912,0.0002321007,0.0002294642,0.000001984128,0.00001723509],"genre_scores_gemma":[0.9972343,0.0017737,0.0007064284,0.00006467976,0.00004696563,0.000004303157,0.0001350881,0.00001513982,0.00001938545],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1834682,"threshold_uncertainty_score":0.409912,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01118059083921972,"score_gpt":0.2754541032727756,"score_spread":0.2642735124335559,"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."}}