{"id":"W4308636364","doi":"10.1186/s13148-022-01358-9","title":"First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders","year":2022,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Det Sundhedsvidenskabelige Fakultet, Københavns Universitet; Istituto Auxologico Italiano; Ministero dell'Università e della Ricerca; RWTH Aachen University; Gentofte Hospital; Instituto de Salud Carlos III; Rigshospitalet; University of Exeter; Faculty of Health and Medical Sciences, University of Western Australia; Universität Hamburg; University Hospital Southampton NHS Foundation Trust; Diabetes UK; National Institute for Health and Care Research; Wellcome Trust; Japan Agency for Medical Research and Development","keywords":"Imprinting (psychology); Locus (genetics); Human genetics; Genomic imprinting; Diagnostic test; Medicine; Genetics; Biology; Pediatrics; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.1909225,0.003158896,0.003984321,0.01586978,0.003751167,0.01136755,0.01658485,0.01429195,0.006187613],"category_scores_gemma":[0.1644433,0.002207425,0.0036204,0.005155909,0.00490772,0.01154958,0.01792303,0.02252457,0.006345566],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.007415842,"about_ca_system_score_gemma":0.03869413,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004438036,"about_ca_topic_score_gemma":0.006388853,"domain_scores_codex":[0.9065787,0.04377433,0.0171841,0.007053933,0.02210861,0.003300375],"domain_scores_gemma":[0.6231102,0.08044516,0.01391213,0.0292624,0.2248663,0.02840384],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0004693981,0.001347732,0.03058853,0.004167268,0.0009316877,0.005589791,0.003648898,0.005564643,0.006946513,0.02128181,0.1979878,0.7214761],"study_design_scores_gemma":[0.001088249,0.002766393,0.04117974,0.021997,0.001831909,0.02401187,0.01211204,0.03859779,0.01872594,0.1810339,0.6553879,0.001267457],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.008713652,0.02431853,0.6936228,0.2451731,0.008588559,0.003035044,0.0004799777,0.003441126,0.01262713],"genre_scores_gemma":[0.03408998,0.005776622,0.917147,0.03239665,0.00437816,0.002193381,0.0008965015,0.0003972835,0.002724377],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.1909225,"threshold_uncertainty_score":0.9977366,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0947107233993399,"score_gpt":0.3618741946444731,"score_spread":0.2671634712451332,"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."}}