{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009443836,0.0002178103,0.0003705956,0.00004016021,0.0002755161,0.00001910087,0.0003936591,0.0001498213,0.00002932641],"category_scores_gemma":[0.006497549,0.0002370884,0.0002932447,0.0001552356,0.0002063509,9.853094e-7,0.0008304908,0.0002183602,0.000001970255],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001380247,"about_ca_system_score_gemma":0.0002304172,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008767374,"about_ca_topic_score_gemma":0.0001189168,"domain_scores_codex":[0.9976377,0.0001531676,0.001006343,0.0005687096,0.0001839919,0.0004500672],"domain_scores_gemma":[0.9979219,0.000859217,0.0004180799,0.0004843756,0.0001743439,0.0001420303],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.00007446772,0.001131401,0.4170904,0.0002992481,0.0002946805,0.000004834572,0.00008195424,0.05112894,0.01993252,0.00008704537,0.0006648794,0.5092096],"study_design_scores_gemma":[0.01146737,0.01440181,0.7085917,0.0001379705,0.000454196,0.00009150589,0.00202009,0.1472345,0.02100336,0.00142455,0.09105189,0.002121043],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9732212,0.001119464,0.02392965,0.000123903,0.0005657412,0.0006631243,0.00009571463,0.00001845026,0.000262726],"genre_scores_gemma":[0.9441887,0.0002277735,0.0549611,0.0000962683,0.0001738755,0.0001120866,0.00003176298,0.0000518916,0.0001565712],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5070885,"threshold_uncertainty_score":0.9668185,"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."}}