{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001226445,0.0001087654,0.000261463,0.0001433036,0.00006059594,0.000007490723,0.0001315522,0.00005003897,0.00000682158],"category_scores_gemma":[0.007043457,0.00007191218,0.00003543955,0.0003423639,0.0004151026,0.00002804496,0.00004640966,0.0001323273,7.599716e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000829824,"about_ca_system_score_gemma":0.000169102,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001070485,"about_ca_topic_score_gemma":0.0000950364,"domain_scores_codex":[0.997999,0.00005892448,0.0004580182,0.0002845242,0.0009411826,0.0002583126],"domain_scores_gemma":[0.9981624,0.0003007324,0.0001233052,0.000317949,0.0009637395,0.0001318283],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.002364367,0.0002937897,0.4015619,0.0003647943,0.0001611774,0.00001195921,0.001614638,0.003985636,0.008748886,0.001347992,0.01171444,0.5678304],"study_design_scores_gemma":[0.006962271,0.005096218,0.8632376,0.0005657501,0.0001170126,0.00006519692,0.002441644,0.01666276,0.004184879,0.01917405,0.08126952,0.0002231316],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9372408,0.03185473,0.01077526,0.01094742,0.0008400053,0.006495506,0.00005371345,0.00008159696,0.001710903],"genre_scores_gemma":[0.8881518,0.0002535386,0.1099507,0.0000851818,0.0008556775,0.0002897856,0.00007718897,0.00002553843,0.0003106279],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5676073,"threshold_uncertainty_score":0.8432185,"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."}}