{"id":"W2109962982","doi":"10.1055/s-0035-1549298","title":"Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus","year":2015,"lang":"en","type":"article","venue":"American Journal of Perinatology Reports","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"","keywords":"Hydrocephalus; Medicine; Prenatal diagnosis; Fetus; Single-nucleotide polymorphism; SNP; Population; Pediatrics; Etiology; Genetic testing; Pregnancy; Genetics; Bioinformatics; Pathology; Gene; Internal medicine; Surgery; Biology; Genotype","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":[0.0004394705,0.0002999267,0.001397484,0.0002096072,0.00005829496,0.00001542322,0.0001867497,0.000156728,0.0000330653],"category_scores_gemma":[0.00165278,0.0002383079,0.0002413067,0.0003975639,0.001966366,0.0002227954,0.00008964362,0.0005617872,0.000002159611],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009407023,"about_ca_system_score_gemma":0.0005583327,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001298017,"about_ca_topic_score_gemma":0.00006081609,"domain_scores_codex":[0.9968224,0.0001469294,0.001631155,0.0004157614,0.000588326,0.0003954126],"domain_scores_gemma":[0.9956121,0.0005088959,0.00228066,0.0004647957,0.0004763414,0.0006571446],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008376926,0.0004421607,0.9356046,0.00001122192,0.0007057731,0.05050879,0.001292913,0.00003915708,0.0002925397,0.000002744552,0.00001825467,0.01024414],"study_design_scores_gemma":[0.003750901,0.01365573,0.6610587,0.001139836,0.001725635,0.3051997,0.005429361,0.0002942616,0.006508342,0.0002498333,0.0003825181,0.000605205],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970656,0.001339877,0.0003700114,0.0002146507,0.0005622906,0.0001693394,0.00001553305,0.00004087376,0.0002218268],"genre_scores_gemma":[0.9892492,0.00006554879,0.01041245,0.0001068882,0.0000952135,0.000006603269,0.00001039765,0.00004441226,0.000009340799],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2745459,"threshold_uncertainty_score":0.9717913,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03721476891170897,"score_gpt":0.3002664377799085,"score_spread":0.2630516688681995,"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."}}