{"id":"W4410901524","doi":"10.1136/jmg-2024-110262","title":"Using long-read sequencing to detect and subtype a case with Temple syndrome","year":2025,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; BC Children's Hospital; University of British Columbia; Hospital for Sick Children; B.C. Women's Hospital & Health Centre; Canada's Michael Smith Genome Sciences Centre","funders":"Canadian Institutes of Health Research; Canada Research Chairs; BC Cancer Agency; BC Children's Hospital","keywords":"Genomic imprinting; Methylation; DNA methylation; Uniparental disomy; Biology; Multiplex; Genetics; Imprinting (psychology); Nanopore sequencing; Computational biology; Epigenomics; Differentially methylated regions; DNA sequencing; Chromosome; Gene; Karyotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0005334757,0.0001303181,0.0002222852,0.0001035314,0.00007901089,0.00003618719,0.0001894487,0.000157843,0.00002386735],"category_scores_gemma":[0.0002800619,0.0001013076,0.00005253942,0.0001631466,0.00006984887,0.000002314787,0.0001771873,0.0001736728,6.989032e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002619215,"about_ca_system_score_gemma":0.0004705858,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000342464,"about_ca_topic_score_gemma":0.00005569556,"domain_scores_codex":[0.9988165,0.00005148917,0.00036062,0.0001800412,0.000352982,0.0002383781],"domain_scores_gemma":[0.9992178,0.00002482226,0.0001345445,0.0001811397,0.0001509895,0.0002906959],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0002498429,0.0001521637,0.1008285,0.0005574212,0.001222303,0.01778519,0.0005251723,0.00383821,0.6065508,0.00005083462,0.0009759302,0.2672637],"study_design_scores_gemma":[0.007089284,0.0103616,0.06013285,0.002525282,0.0008651417,0.7047761,0.002317762,0.004867375,0.1836989,0.0004565891,0.02152016,0.001388996],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9489957,0.002311757,0.04808635,0.0002920155,0.0001608724,0.00008796898,0.000001339041,0.000002253529,0.0000617479],"genre_scores_gemma":[0.968589,0.0002683313,0.03057393,0.0003680537,0.0001088683,0.000001007007,5.997575e-7,0.00001477804,0.00007540039],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6869909,"threshold_uncertainty_score":0.4131205,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02957498779789168,"score_gpt":0.3141845600856977,"score_spread":0.284609572287806,"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."}}