{"id":"W4281258467","doi":"10.1002/ajmg.a.62782","title":"A 79‐kb paternally inherited 7q32.2 microdeletion involving <scp><i>MEST</i></scp> in a patient with a <scp>Silver‐Russell</scp> syndrome‐like phenotype","year":2022,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"","keywords":"Phenotype; Genetics; Genomic imprinting; Uniparental disomy; Biology; Imprinting (psychology); Gene; Chromosome; DNA methylation; Karyotype; Gene expression","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001093492,0.0003881018,0.0006486912,0.0002524664,0.0001619315,0.00006696025,0.0008184309,0.0001510739,0.00004807045],"category_scores_gemma":[0.0004771662,0.0003535741,0.0002108135,0.0006672087,0.0003243104,0.000009858622,0.0005684151,0.0008075743,0.000006540972],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008753328,"about_ca_system_score_gemma":0.0006854938,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001363394,"about_ca_topic_score_gemma":0.00006204817,"domain_scores_codex":[0.9955381,0.0004785986,0.001068408,0.0005575562,0.001580822,0.0007765386],"domain_scores_gemma":[0.9976201,0.0001349161,0.0009825429,0.0004473982,0.0002414522,0.0005735757],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002598178,0.003639422,0.2300284,0.0003092039,0.00194998,0.006273177,0.01200062,0.01650646,0.5024719,0.00002993043,0.01960648,0.2069246],"study_design_scores_gemma":[0.01242316,0.05081813,0.1323603,0.001418001,0.0005809366,0.04911326,0.03394247,0.006341609,0.02673572,0.0002229418,0.6849467,0.001096824],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938008,0.004097616,0.001028229,0.0002284809,0.0004486288,0.0002466935,0.00001512806,0.00001157487,0.0001228175],"genre_scores_gemma":[0.9928954,0.001850933,0.003324773,0.001417053,0.0001837324,0.00003911606,0.00003425091,0.0000819917,0.0001727204],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6653401,"threshold_uncertainty_score":0.9998916,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007081262859299045,"score_gpt":0.2201342164133504,"score_spread":0.2130529535540513,"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."}}