{"id":"W3158470191","doi":"10.1136/jmedgenet-2021-107809","title":"Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability","year":2021,"lang":"en","type":"review","venue":"Journal of Medical Genetics","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Cégep de Chicoutimi; Centre Hospitalier Universitaire Sainte-Justine; Université de Sherbrooke; Centre de Santé et de Services Sociaux de Chicoutimi; Université du Québec à Chicoutimi","funders":"Université du Québec à Chicoutimi","keywords":"Founder effect; Population; Genetic testing; Public health; Population genetics; Genetics; Genetic genealogy; Biology; Genealogy; Geography; Demography; Medicine; History; Genotype; Gene; Sociology; Haplotype; Pathology","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":[0.001763564,0.0002726231,0.0006561824,0.002762925,0.0004732075,0.001332165,0.0005150015,0.0005835268,0.004417525],"category_scores_gemma":[0.005090215,0.0001208507,0.0005219703,0.003282654,0.0004413249,0.0004588865,0.0003675657,0.0005762925,0.0004601091],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001462587,"about_ca_system_score_gemma":0.002418591,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.09941047,"about_ca_topic_score_gemma":0.121291,"domain_scores_codex":[0.9987257,0.0002726314,0.0001842364,0.000245709,0.0004747653,0.0000969073],"domain_scores_gemma":[0.9951373,0.002964525,0.0006290443,0.0001460648,0.0009980681,0.0001249851],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006063071,0.00005927779,0.2691088,0.00620036,0.0009695248,0.01138829,0.001696655,0.0007506529,0.004799887,0.004111779,0.03593709,0.6643714],"study_design_scores_gemma":[0.00005350119,0.0001524815,0.5683926,0.006599255,0.001465983,0.02944715,0.001635758,0.0006294246,0.002872252,0.002492193,0.3861464,0.0001130805],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.2234813,0.7026587,0.005278629,0.009588989,0.001012233,0.000104867,0.01368104,0.0003565394,0.04383776],"genre_scores_gemma":[0.6516414,0.3201137,0.005894074,0.003454049,0.0008592983,0.00007312556,0.01074649,0.0001282266,0.007089651],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9005895,"threshold_uncertainty_score":0.1976637,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06955002893516775,"score_gpt":0.3883410244213471,"score_spread":0.3187909954861793,"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."}}