{"id":"W4200007746","doi":"10.3390/genes13010036","title":"Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel","year":2021,"lang":"en","type":"article","venue":"Genes","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Azrieli Foundation; Israel Science Foundation","keywords":"Exome sequencing; Autism spectrum disorder; Medicine; Genetic testing; Christian ministry; Autism; Cost effectiveness; Population; Yield (engineering); Pediatrics; Genetics; Psychiatry; Biology; Internal medicine; Gene; Mutation; Environmental health","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.008013734,0.0004190571,0.0003116956,0.0008341725,0.0001350556,0.001319057,0.0006501919,0.0006360263,0.002391383],"category_scores_gemma":[0.02136361,0.0001858254,0.0006007507,0.000558943,0.0004669958,0.0008441154,0.0008859032,0.0006085247,0.0002353897],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002169749,"about_ca_system_score_gemma":0.001610838,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005571119,"about_ca_topic_score_gemma":0.005051594,"domain_scores_codex":[0.9975691,0.001624035,0.0001243112,0.0001810175,0.000358305,0.0001432033],"domain_scores_gemma":[0.9901019,0.007778042,0.0007088173,0.0002016712,0.0008073661,0.0004022738],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002771013,0.0002791067,0.5709853,0.0004964504,0.0006063589,0.001368969,0.0003050901,0.02299519,0.002745059,0.005006644,0.007849965,0.384591],"study_design_scores_gemma":[0.0008181416,0.001721042,0.7823731,0.001675395,0.001697179,0.005589171,0.002472363,0.154738,0.009970514,0.01828002,0.02047455,0.000190546],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9403532,0.01244285,0.009449689,0.02086429,0.000211379,0.0001044549,0.002522988,0.0001275628,0.01392343],"genre_scores_gemma":[0.9932728,0.001884209,0.003235072,0.0005343023,0.00006654768,0.00003235194,0.0006898348,0.00001176786,0.0002731824],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008013734,"threshold_uncertainty_score":0.04238123,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07810452240968153,"score_gpt":0.3257898790848003,"score_spread":0.2476853566751188,"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."}}