{"id":"W2607129590","doi":"10.1002/pd.5055","title":"Experience of carrier couples identified through a population‐based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay–Lac‐Saint‐Jean","year":2017,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Children's Hospital of Eastern Ontario","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research","keywords":"Founder effect; Carrier testing; Medicine; Population; Genetic counseling; Family history; Solute carrier family; Family medicine; Genetics; Biology; Surgery; Prenatal diagnosis; Pregnancy; Environmental health","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001011058,0.0002320575,0.0002868269,0.00005382075,0.0002604635,0.0001261238,0.0004974045,0.000110377,0.00005273943],"category_scores_gemma":[0.0008728399,0.0002272985,0.0001633804,0.00007093705,0.0002106385,0.00003986737,0.0001853323,0.0000580915,6.932625e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008071976,"about_ca_system_score_gemma":0.00005121119,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004411624,"about_ca_topic_score_gemma":0.001673901,"domain_scores_codex":[0.9984425,0.00005585225,0.0003616194,0.0005495492,0.0002292708,0.0003612645],"domain_scores_gemma":[0.9986887,0.00005995309,0.0002969674,0.0007165867,0.0001269436,0.0001108259],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004101729,0.0004288519,0.964362,0.0002055057,0.0001093267,0.000005800678,0.0004061342,0.0008283974,0.001686812,0.0001945058,0.0004192542,0.0309432],"study_design_scores_gemma":[0.002741167,0.0004111723,0.9479342,0.0002014675,0.0001129444,0.000001279927,0.0004666671,0.001223969,0.0422603,0.0005356185,0.003618516,0.0004927551],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927879,0.002200782,0.002904416,0.0002079309,0.0002861596,0.001025209,0.0005026948,0.00002102092,0.00006389216],"genre_scores_gemma":[0.9947009,0.0001413047,0.002569159,0.00008636397,0.000108584,0.00170491,0.0005368382,0.00003611801,0.0001158436],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04057349,"threshold_uncertainty_score":0.9268963,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03690148221373216,"score_gpt":0.3258521302829512,"score_spread":0.288950648069219,"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."}}