{"id":"W2184207753","doi":"10.1097/mcd.0000000000000108","title":"Incidental finding of paternal UPD15 in a child with a deletion of 11q21–q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features","year":2015,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"B.C. Women's Hospital & Health Centre; Child and Family Research Institute; University of British Columbia","funders":"","keywords":"Medicine; Coloboma; Genetics; Ophthalmology; Biology","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":[0.0003738661,0.0001400656,0.0003174564,0.00006491583,0.00003582479,0.000009297526,0.0001265782,0.0001751611,0.00001337128],"category_scores_gemma":[0.0001280813,0.000112524,0.00003626072,0.00008224633,0.0003004403,0.000009046917,0.0001560483,0.0001544182,0.000001278802],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001845345,"about_ca_system_score_gemma":0.0001445194,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001332176,"about_ca_topic_score_gemma":0.0002605374,"domain_scores_codex":[0.9987553,0.0001259086,0.0005094278,0.0002933945,0.0001147543,0.0002012177],"domain_scores_gemma":[0.9993483,0.0000393501,0.000301315,0.0001298608,0.00009977396,0.00008139517],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001015586,0.0002142799,0.9902952,0.00004043799,0.00009852719,0.0001720912,0.0002474263,0.00003970731,0.00743695,0.00009801497,0.00006172179,0.0002801062],"study_design_scores_gemma":[0.002710585,0.001836125,0.9853323,0.00006996548,0.00004197728,0.003872064,0.0005263502,0.00004215752,0.005144969,0.00004670443,0.0001871568,0.0001897242],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992363,0.0001078933,0.0001434656,0.00006351776,0.00006614206,0.0001689344,0.00003390467,0.000003880374,0.0001759917],"genre_scores_gemma":[0.9975604,0.00003223426,0.002051441,0.00007062197,0.00006207388,0.00001664368,0.0001199532,0.00001447518,0.00007211441],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00496293,"threshold_uncertainty_score":0.4588594,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02442405847539957,"score_gpt":0.2742716856660578,"score_spread":0.2498476271906582,"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."}}