{"id":"W2022051629","doi":"10.1038/ng1487","title":"Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib","year":2004,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":252,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Division of Materials Research; National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"GNAS complex locus; Pseudohypoparathyroidism; Biology; Genomic imprinting; Genetics; Exon; Imprinting (psychology); Epigenetics; Allele; Gene; Internal medicine; DNA methylation; Parathyroid hormone; Gene expression; Medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.00007337613,0.0001428376,0.0001601147,0.00003089135,0.00004381606,0.00001092042,0.000211454,0.0003297154,0.000002555245],"category_scores_gemma":[0.00005298469,0.0001077931,0.00007352945,0.0001090049,0.0001132681,0.000001717377,0.000199918,0.0001595904,6.601537e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007851533,"about_ca_system_score_gemma":0.00006635815,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002180145,"about_ca_topic_score_gemma":0.00001874682,"domain_scores_codex":[0.999149,0.00004079278,0.0002512541,0.0002334055,0.0001622765,0.0001632222],"domain_scores_gemma":[0.9992358,0.00000501452,0.0001872389,0.0003488663,0.0001794048,0.00004366775],"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":[0.00002362036,0.00003867921,0.04224192,0.00003413056,0.00005382848,0.000001059067,0.00005168346,0.000236634,0.9561484,0.00007060062,0.00002841553,0.001071025],"study_design_scores_gemma":[0.0004282045,0.0001769913,0.326211,0.00002293353,0.00003681382,0.00007068312,0.00001247545,0.0000127321,0.6722431,0.0004388775,0.0002600313,0.00008621303],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948743,0.004118446,0.0003894864,0.0000725883,0.0003386179,0.0001489385,0.000006061758,0.00000413196,0.00004741668],"genre_scores_gemma":[0.9974728,0.001183519,0.001114072,0.00004630091,0.00007713283,0.000001746953,0.00000928909,0.000019029,0.00007617707],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.283969,"threshold_uncertainty_score":0.4395674,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007878920898433147,"score_gpt":0.2417615647748161,"score_spread":0.2338826438763829,"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."}}