{"id":"W2953779018","doi":"10.1038/s41436-019-0583-1","title":"The value of diagnostic testing for parents of children with rare genetic diseases","year":2019,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":61,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; Children's Hospital of Eastern Ontario; University of Ottawa; University of Calgary","funders":"Genome Alberta; Muscular Dystrophy Canada; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Genome British Columbia; Rare Disease Foundation; Ontario Genomics Institute","keywords":"Genetic testing; Willingness to pay; Medicine; Diagnostic test; Valuation (finance); Test (biology); Disease; Pediatrics; Family medicine; Pathology; Internal medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003839498,0.00106125,0.001002846,0.002427754,0.000809236,0.001635801,0.001349371,0.003189671,0.003984561],"category_scores_gemma":[0.04255242,0.0003794338,0.0006114356,0.0007582812,0.001061664,0.001858932,0.0007825688,0.002476386,0.0008766589],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007973075,"about_ca_system_score_gemma":0.00154531,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005025228,"about_ca_topic_score_gemma":0.002575095,"domain_scores_codex":[0.9969688,0.001425663,0.0002769376,0.0002514617,0.000828378,0.0002487851],"domain_scores_gemma":[0.968811,0.02391967,0.001228513,0.0009907801,0.003375127,0.001674919],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002635893,0.0004513703,0.6046224,0.0006807501,0.0002862448,0.05096682,0.001424656,0.002581228,0.004857253,0.006013646,0.02919947,0.2962802],"study_design_scores_gemma":[0.0005044289,0.002228185,0.5444489,0.006340115,0.001453537,0.2866138,0.008557163,0.02532131,0.01520842,0.03009005,0.07883976,0.0003943123],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7060361,0.1078206,0.01408274,0.09200718,0.005497423,0.0001202324,0.001694969,0.0005663825,0.07217444],"genre_scores_gemma":[0.9727226,0.01401741,0.006017087,0.003402767,0.00195293,0.00003602473,0.0004134513,0.00005926143,0.001378355],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005025228,"threshold_uncertainty_score":0.0203054,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007080501033203151,"score_gpt":0.2431206845307143,"score_spread":0.2360401834975111,"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."}}