{"id":"W2883447942","doi":"10.1136/jmedgenet-2018-105328","title":"Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay","year":2018,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Uniparental disomy; Genetics; Biology; Genomic imprinting; Exome sequencing; Imprinting (psychology); Karyotype; SNP array; Chromosome; DNA methylation; Phenotype; Single-nucleotide polymorphism; Gene; Genotype","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":[0.0003612664,0.0001338438,0.0002770185,0.00008966713,0.00002444429,0.000008953565,0.0002661898,0.0001577912,0.00003654129],"category_scores_gemma":[0.0001341915,0.00009904055,0.00005905451,0.000109552,0.0003121543,0.000003587737,0.0001624771,0.0001717287,4.1594e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001951531,"about_ca_system_score_gemma":0.0003840472,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002945832,"about_ca_topic_score_gemma":0.00008489459,"domain_scores_codex":[0.9985355,0.00005772004,0.0005401322,0.0001500326,0.000517144,0.0001994467],"domain_scores_gemma":[0.999238,0.00001937515,0.0003022983,0.0001127296,0.0001199756,0.0002076807],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000169341,0.0004158152,0.8327725,0.0001568164,0.0002585529,0.0000771786,0.0008641611,0.00006479823,0.1448156,0.00001353905,0.0002477722,0.02014391],"study_design_scores_gemma":[0.003662527,0.005225643,0.8394528,0.0006401164,0.00007142022,0.005143893,0.0009598035,0.0002337547,0.1430513,0.00006684105,0.001220632,0.0002712962],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964836,0.002615811,0.0005402847,0.000128442,0.0001248058,0.00007176484,0.000004026641,9.154749e-7,0.00003041291],"genre_scores_gemma":[0.9951636,0.001006777,0.003547147,0.0000518695,0.000193806,0.000001001105,0.000003183153,0.00001421949,0.00001845714],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01987261,"threshold_uncertainty_score":0.4038756,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01000815464124764,"score_gpt":0.248395496992991,"score_spread":0.2383873423517434,"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."}}