{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000811318,0.0008300783,0.0004394783,0.0006733689,0.0005204009,0.0003296523,0.0004332522,0.001429856,0.00167701],"category_scores_gemma":[0.0006188629,0.0004279042,0.0003643227,0.0003911399,0.0006471262,0.000359023,0.0004296162,0.0009175263,0.0004440219],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003484958,"about_ca_system_score_gemma":0.0002794711,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001511053,"about_ca_topic_score_gemma":0.002026924,"domain_scores_codex":[0.9998347,0.00001441994,0.00001087018,0.00006993415,0.00003764161,0.00003246309],"domain_scores_gemma":[0.9996941,0.00009666319,0.00006619178,0.00001264621,0.00001281618,0.0001175529],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001917662,0.00008343131,0.02807975,0.00005811062,0.00003203709,0.8651154,0.0007309912,0.0003664701,0.0986066,0.0004441087,0.0005963116,0.005695064],"study_design_scores_gemma":[0.00005700445,0.0004895813,0.08353936,0.00001162637,0.00006238303,0.8946636,0.0001840152,0.0009498105,0.01836206,0.000294647,0.001348944,0.00003702444],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961242,0.0003202738,0.001297739,0.0005143547,0.00004996955,0.00002635942,0.0002248035,0.0000784341,0.00136381],"genre_scores_gemma":[0.9978352,0.0001418515,0.0008702595,0.0001306851,0.0000415883,0.000009181933,0.0001258685,0.0000169433,0.0008283684],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00167701,"threshold_uncertainty_score":0.005610168,"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."}}