{"id":"W4294733395","doi":"10.1038/s41431-022-01181-z","title":"Developmental implications of genetic testing for physical indications","year":2022,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ontario Genomics; SickKids Foundation; Holland Bloorview Kids Rehabilitation Hospital; Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research; Hospital for Sick Children","keywords":"Autism; Genetic testing; Neurodevelopmental disorder; Intellectual disability; Autism spectrum disorder; Diagnostic test; Medical genetics; Physical examination; Developmental disorder; Medicine; Genetics; Pediatrics; Biology; Psychiatry; Gene; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003538541,0.00007740045,0.0001071792,0.00009346652,0.0002554272,0.00001217388,0.0003734324,0.000009154132,0.00002008691],"category_scores_gemma":[0.000111864,0.00008266931,0.00009989757,0.0001357851,0.00007309635,0.000001785069,0.000273578,0.0001236303,0.000002374259],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002532216,"about_ca_system_score_gemma":0.0001773062,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":3.237534e-7,"about_ca_topic_score_gemma":0.000001418813,"domain_scores_codex":[0.9990131,0.0001780172,0.0003498115,0.0001269974,0.0001825054,0.0001495642],"domain_scores_gemma":[0.9992518,0.00003905268,0.0002273864,0.0001443339,0.0002594687,0.00007799905],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00002386866,0.0001565483,0.007438032,0.0000145491,0.00005198138,0.00000446048,0.0002048619,0.0002650828,0.9740632,0.0000306074,0.001050816,0.01669601],"study_design_scores_gemma":[0.002639954,0.0150177,0.7410672,0.00002935089,0.0001528842,0.001017954,0.0007481843,0.0001981317,0.1809153,0.0008700056,0.05679588,0.0005474058],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965167,0.0004157467,0.001380251,0.00004526581,0.00003081311,0.0001653199,0.00004153848,0.000002497817,0.001401858],"genre_scores_gemma":[0.9885107,0.000007585531,0.01100904,0.00003315847,0.0002190999,0.000009030591,0.00001747955,0.00003078351,0.0001631347],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7931479,"threshold_uncertainty_score":0.3371156,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04849288126617791,"score_gpt":0.323757653064249,"score_spread":0.2752647717980711,"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."}}