{"id":"W2072497619","doi":"10.1038/gim.2015.55","title":"The Israeli national population program of genetic carrier screening for reproductive purposes","year":2015,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":74,"is_retracted":false,"has_abstract":false,"ca_institutions":"Institute of Genetics","funders":"Ministry of Health, State of Israel","keywords":"Population; Medicine; Carrier testing; Genetic testing; Carrier signal; Genetic counseling; Cystic fibrosis; Disease; Demography; Pediatrics; Environmental health; Family medicine; Internal medicine; Biology; Genetics; Transmission (telecommunications); Prenatal diagnosis; Pregnancy; Telecommunications","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002687274,0.0002474496,0.0002296192,0.0008991178,0.0009637342,0.000517998,0.0007780563,0.0009546676,0.01160845],"category_scores_gemma":[0.004245474,0.000147105,0.0001705731,0.0005337251,0.0003551792,0.0003308096,0.001297763,0.001018902,0.002047133],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001452994,"about_ca_system_score_gemma":0.01074069,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02713154,"about_ca_topic_score_gemma":0.02209532,"domain_scores_codex":[0.9992371,0.0003138946,0.00002347893,0.00006210334,0.0001371308,0.0002264359],"domain_scores_gemma":[0.9974968,0.0004658525,0.0001075515,0.0001304624,0.0007253057,0.001074061],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0009137414,0.002022619,0.329887,0.0001839684,0.00005360877,0.001113215,0.001034714,0.0005920994,0.003976551,0.01201483,0.3356429,0.3125648],"study_design_scores_gemma":[0.0008488951,0.0007241469,0.5544685,0.0003581259,0.00005841555,0.00119804,0.001353476,0.001059667,0.001912671,0.00250612,0.4354776,0.00003429252],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4305596,0.003485032,0.008246451,0.1353018,0.00253818,0.004827677,0.03697156,0.0004796635,0.3775901],"genre_scores_gemma":[0.6963247,0.004885592,0.01435736,0.05117525,0.001728579,0.006834643,0.02942329,0.0001303967,0.1951403],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02713154,"threshold_uncertainty_score":0.05394721,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09988712822120394,"score_gpt":0.4323796672207593,"score_spread":0.3324925389995554,"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."}}