Novel founder variants found in this study.

<div><p>Rare genetic diseases impact many people worldwide and are challenging to diagnose. In this study, we introduce a novel regional population cohort approach to identify pathogenic variants causing Mendelian diseases that occur more frequently within specific populations and are of...

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محفوظ في:

التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Élisa Michel (22446186) (author)
مؤلفون آخرون:	Claudia Moreau (421048) (author), Laurence Gagnon (20114225) (author), Mylène Gagnon (22446189) (author), Josianne Leblanc (12508927) (author), Jessica Tardif (5992223) (author), Lysanne Girard (12508921) (author), Jean Mathieu (176827) (author), Cynthia Gagnon (3554621) (author), Mathieu Desmeules (12508936) (author), Jean-Denis Brisson (22446192) (author), Luigi Bouchard (724712) (author), Simon L. Girard (17054561) (author)
منشور في:	2025
الموضوعات:	Microbiology Ecology Sociology Virology Environmental Sciences not elsewhere classified Biological Sciences not elsewhere classified Mathematical Sciences not elsewhere classified saguenay &# 8211 rare disease prevalence five variants found certain pathogenic variants 12 pathogenic variants rare diseases load patients &# 8217 identified founder variants carrier rates estimates founder effect followed urban quebec regions could aid clinicians founder effect studied variants severe diseases diagnosed patients carrier testing carrier test shared identical rapid expansion potential underestimation diagnostic efforts descent segments common due clinical interest based approach also observed
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Novel founder variants found in this study.

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