{"id":"W4388896060","doi":"10.1001/jamanetworkopen.2023.43384","title":"Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus","year":2023,"lang":"en","type":"review","venue":"JAMA Network Open","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston Health Sciences Centre; Queen's University","funders":"National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Rudi Schulte Research Institute","keywords":"Ventriculomegaly; Proband; Exome sequencing; Exome; Medicine; Meta-analysis; Genetics; Pediatrics; Internal medicine; Biology; Pregnancy; Mutation; Fetus; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003086523,0.000366766,0.001848041,0.0001244867,0.00002845998,0.00003675867,0.000461358,0.0003348691,0.0001051486],"category_scores_gemma":[0.0008306066,0.0002449898,0.0002166111,0.001100206,0.00006887632,0.00008364565,0.0004237172,0.0006496895,0.00006925075],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008403922,"about_ca_system_score_gemma":0.0003360057,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00018808,"about_ca_topic_score_gemma":0.00003587976,"domain_scores_codex":[0.9978831,0.0001601634,0.0007021871,0.0004802535,0.0003475518,0.0004267659],"domain_scores_gemma":[0.9977929,0.001300191,0.0003437077,0.0003593685,0.00006038091,0.0001434327],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001322109,0.0007147616,0.06331252,0.03494741,0.00193539,0.005164424,0.000132293,0.00154675,1.613174e-7,0.0002332602,0.00598212,0.8847088],"study_design_scores_gemma":[0.02148502,0.01530542,0.1232916,0.1663621,0.01596716,0.0001847016,0.00009578226,0.0002838516,0.000001102928,0.00155107,0.6506892,0.004783012],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02838702,0.9633183,0.000003428108,0.00005176893,0.0001681433,0.003752007,0.00006714967,0.00003934865,0.004212877],"genre_scores_gemma":[0.01413626,0.9844655,0.00004747304,0.0003509675,0.0001799352,0.0002251986,0.0003305029,0.00008531436,0.0001787823],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.8799258,"threshold_uncertainty_score":0.9990392,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05391581891945656,"score_gpt":0.298990920704327,"score_spread":0.2450751017848705,"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."}}