{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001773037,0.0003072224,0.0002762843,0.000257244,0.000076601,0.0002227797,0.0001853676,0.0001903079,0.0008330012],"category_scores_gemma":[0.0007946994,0.00008979032,0.0002082465,0.0001321816,0.00007245899,0.00009986555,0.0002458624,0.0001545176,0.0001671657],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001169341,"about_ca_system_score_gemma":0.0002059214,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00345236,"about_ca_topic_score_gemma":0.003374073,"domain_scores_codex":[0.9999232,0.00001966383,0.000005523713,0.00003016646,0.00001127765,0.00001009894],"domain_scores_gemma":[0.9998384,0.00007041022,0.00002588368,0.00001857914,0.00002204989,0.0000246603],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004055961,0.0002045408,0.5922282,0.0001402167,0.0003894761,0.001772219,0.0002224174,0.1040659,0.1675931,0.0006749504,0.001918079,0.1267349],"study_design_scores_gemma":[0.00007347399,0.0003477369,0.2337018,0.00001489099,0.0001228073,0.001114603,0.00008170058,0.7378725,0.02512557,0.0007369479,0.0007848556,0.00002312025],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940203,0.0000640307,0.005113994,0.00002509042,0.000002923614,0.000008430899,0.0003840266,0.0001047163,0.0002764429],"genre_scores_gemma":[0.9964151,0.00002968792,0.002521252,0.00001344128,0.000002316343,0.000007282502,0.0007893503,0.00000864403,0.0002128007],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00345236,"threshold_uncertainty_score":0.006864548,"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."}}