{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002940637,0.0003226253,0.0003201939,0.0004715374,0.005565088,0.001233008,0.0006176776,0.0008281861,0.003101409],"category_scores_gemma":[0.004767592,0.0003075184,0.0002034506,0.0005064587,0.002042465,0.0008111132,0.002524885,0.0009889916,0.0001995019],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002842656,"about_ca_system_score_gemma":0.004159111,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.09368171,"about_ca_topic_score_gemma":0.1056719,"domain_scores_codex":[0.998256,0.001113951,0.00004114131,0.00009667228,0.0001714628,0.000320686],"domain_scores_gemma":[0.9976345,0.0008383808,0.0002238619,0.00003839956,0.000320497,0.0009444021],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"observational","study_design_scores_codex":[0.0001539504,0.0003429051,0.08131454,0.0001082393,0.00001217607,0.008513577,0.8887921,0.00008039051,0.001983441,0.0004343534,0.001792655,0.0164717],"study_design_scores_gemma":[0.00001997255,0.0006087667,0.03156376,0.00008329032,0.00001606104,0.002511179,0.9583982,0.0002589605,0.0003431376,0.0001051067,0.00605578,0.00003585154],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981472,0.0001615228,0.0002346689,0.0005091616,0.00001605481,0.0000724472,0.00003337696,0.000004968903,0.0008205677],"genre_scores_gemma":[0.9977077,0.0003220949,0.0002610229,0.0003403107,0.00001009248,0.00005263143,0.00003734993,0.000005455223,0.001263192],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9063183,"threshold_uncertainty_score":0.1862728,"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."}}