{"id":"W2117476997","doi":"10.1111/j.1399-0004.2010.01547.x","title":"CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy","year":2010,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; McMaster University; Victoria General Hospital; Montreal Children's Hospital; Children's Hospital of Eastern Ontario; Alberta Children's Hospital; Diagnostic Services Manitoba","funders":"","keywords":"Uniparental disomy; Genetic testing; Prenatal diagnosis; Guideline; Medicine; Diagnostic test; Genetic counseling; Medical genetics; Genetics; Family medicine; Pediatrics; Biology; Pregnancy; Chromosome; Karyotype; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.007261643,0.001125753,0.001123121,0.005256557,0.001552156,0.001366669,0.004032727,0.007818334,0.007835511],"category_scores_gemma":[0.02930947,0.0007032298,0.001059842,0.003776375,0.001763585,0.0009123933,0.002041328,0.005125825,0.005499392],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006321846,"about_ca_system_score_gemma":0.02603395,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.244485,"about_ca_topic_score_gemma":0.3509076,"domain_scores_codex":[0.9911544,0.002362668,0.001770798,0.0003337956,0.003738336,0.0006399861],"domain_scores_gemma":[0.9739106,0.004985575,0.001784437,0.0005218523,0.01703933,0.001758195],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00002927785,0.00004545496,0.002527057,0.0002599829,0.00001372548,0.0005035066,0.0001611594,0.0001941861,0.0003379204,0.001378219,0.9357314,0.05881813],"study_design_scores_gemma":[0.0001110531,0.00005963752,0.02916,0.004080305,0.00007865729,0.004622617,0.0003812876,0.0005532682,0.0007714818,0.004090529,0.9560063,0.00008496069],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"methods","genre_scores_codex":[0.008446154,0.0995345,0.03473802,0.5712658,0.03037801,0.006204012,0.02617102,0.002816107,0.2204464],"genre_scores_gemma":[0.05806028,0.1231089,0.2830235,0.3185924,0.01259627,0.00848907,0.05412088,0.001221632,0.1407871],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.9936782,"threshold_uncertainty_score":0.4861239,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06582523456584276,"score_gpt":0.3774007015368377,"score_spread":0.3115754669709949,"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."}}