Article

Rare diseases load through the study of a regional population

2024-10-30

Abstract excerpt

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 that occur more frequently within specific populations and are of clinical interest. We utilized a cohort from Quebec, including the Saguenay–Lac-Saint-Jean region, which is known for its founder effect and higher frequency of ce...

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Literature Corpus work: 5a11a371-53ce-5ca5-8600-dd96aca7e1ee
DOI: 10.1101/2024.10.29.24316346

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