{"id":"W4200244090","doi":"10.22541/au.163937560.03582713/v1","title":"Road to A Rare Diagnosis: A Case Report Exploring Phenotype, Clinical Management and Outcome of a Rare and Novel Unbalanced Translocation causing complete Trisomy 17p","year":2021,"lang":"en","type":"preprint","venue":"","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"","keywords":"Chromosomal translocation; Trisomy; Karyotype; Partial Trisomy; Trisomy 8; Phenotype; Genetics; Biology; Medicine; Chromosome; Gene","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":[0.0003003135,0.001647237,0.000971193,0.002427363,0.001984761,0.001937752,0.0009679925,0.005037427,0.003182337],"category_scores_gemma":[0.003144707,0.0008555863,0.000880415,0.001292481,0.001580648,0.0018216,0.002426711,0.003773701,0.001317566],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001090094,"about_ca_system_score_gemma":0.0009539766,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00149229,"about_ca_topic_score_gemma":0.001835526,"domain_scores_codex":[0.9993501,0.00008180855,0.00007961921,0.0001934785,0.000101786,0.000193292],"domain_scores_gemma":[0.9984626,0.0004781106,0.0003866302,0.0001128828,0.00009486052,0.0004649651],"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":[0.000007029947,0.00001127184,0.002456201,0.000009902277,0.000002380482,0.9962347,0.00007472526,0.00002767715,0.0002989577,0.00008612125,0.0001699883,0.0006210469],"study_design_scores_gemma":[0.000001322505,0.00001470867,0.0009800732,0.000007755428,0.000003195772,0.9983981,0.00006504852,0.00003979652,0.00009267822,0.0000946472,0.0002979176,0.000004687653],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9579177,0.01107256,0.006283765,0.009440121,0.0008163793,0.000206481,0.000611932,0.0002509152,0.01340021],"genre_scores_gemma":[0.980034,0.005919117,0.004755236,0.002192566,0.002188251,0.00006552827,0.0003188725,0.0001027143,0.004423712],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005037427,"threshold_uncertainty_score":0.01064593,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.216886817864345,"score_gpt":0.3812618802603934,"score_spread":0.1643750623960483,"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."}}