{"id":"W2953369183","doi":"10.1038/s41436-019-0554-6","title":"Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders","year":2019,"lang":"en","type":"review","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":711,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; Hospital for Sick Children","keywords":"Intellectual disability; Autism spectrum disorder; Exome sequencing; Rett syndrome; Genetic testing; Autism; Neurodevelopmental disorder; Medicine; Global developmental delay; Diagnostic test; Psychiatry; Pediatrics; Genetics; Biology; Mutation; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0007761237,0.0005551144,0.00251885,0.0002752798,0.00009520364,0.00002222358,0.0002967674,0.0002960378,0.00003815922],"category_scores_gemma":[0.0005762391,0.0003744361,0.0006577759,0.0003090533,0.0003295687,0.000001564137,0.0002979382,0.0002046586,0.000002860092],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003521221,"about_ca_system_score_gemma":0.0004100272,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002409545,"about_ca_topic_score_gemma":0.0003008072,"domain_scores_codex":[0.9969081,0.0001470471,0.001258714,0.001046433,0.0002454697,0.0003942344],"domain_scores_gemma":[0.9972858,0.001300493,0.0005429199,0.0006048161,0.00007861981,0.0001873627],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"meta_analysis","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002359964,0.001541547,0.269328,0.04294633,0.3772389,0.0003386906,0.002022938,0.0009533683,0.00003563803,0.0000135181,0.009395251,0.2959498],"study_design_scores_gemma":[0.002007231,0.00159884,0.002926959,0.0006862095,0.2477883,0.00004411296,0.000267078,0.00009580066,0.000005888871,0.00004875827,0.7436038,0.0009270915],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.009511886,0.9870203,0.0001486105,0.0002091677,0.0001343538,0.001830106,0.001117057,0.000005278828,0.0000232102],"genre_scores_gemma":[0.002995275,0.9910969,0.003352267,0.0002265049,0.0001229648,0.0003342316,0.001554387,0.00007592214,0.0002415552],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.7342085,"threshold_uncertainty_score":0.9998708,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1379369029473237,"score_gpt":0.3966323726930231,"score_spread":0.2586954697456995,"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."}}