{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009481276,0.00007108299,0.0001338078,0.00009090284,0.00006971631,0.00003071493,0.0001416707,0.00003728976,0.00004619842],"category_scores_gemma":[0.001211396,0.00007823685,0.00003349128,0.0001613451,0.000072444,0.00009612882,0.0001131441,0.00005775185,0.00001772654],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006740852,"about_ca_system_score_gemma":0.0001558778,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003821564,"about_ca_topic_score_gemma":0.002260213,"domain_scores_codex":[0.9991863,0.00003128787,0.0001804623,0.0003182919,0.00006045954,0.0002231872],"domain_scores_gemma":[0.9977231,0.001944785,0.00004379829,0.000233645,0.000009183285,0.00004545624],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000007082938,0.0000819046,0.5220003,0.0001088673,0.000005665146,0.00001362683,0.0003695205,0.0003918851,0.4269186,0.03739393,0.0002030394,0.0125056],"study_design_scores_gemma":[0.0003463053,0.00006086485,0.2566653,0.00004246259,0.000008314839,0.00002034842,0.0002619657,0.0005515037,0.7202872,0.0205483,0.001055249,0.0001522036],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890593,0.001051924,0.0001955711,0.008976779,0.00004846913,0.0002884602,0.000112925,0.00001435896,0.0002522203],"genre_scores_gemma":[0.9978953,0.001265343,0.0001744443,0.0001704126,0.00002087077,0.0003383228,0.000003480923,0.00001313647,0.0001186765],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2933686,"threshold_uncertainty_score":0.3190406,"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."}}