Curated incidence of lysosomal storage diseases from the Taiwan Biobank
Meng-Ju Melody Tsai,
Miao-Zi Hung,
Yi-Lin Lin
et al.
Abstract:Lysosomal storage diseases (LSDs) are a group of metabolic disorders resulting from a deficiency in one of the lysosomal hydrolases. Most LSDs are inherited in an autosomal or X-linked recessive manner. As LSDs are rare, their true incidence in Taiwan remains unknown. In this study, we used high-coverage whole-genome sequencing data from 1,495 Taiwanese individuals obtained from the Taiwan Biobank. We found 3826 variants in 71 genes responsible for autosomal recessive LSDs. We first excluded benign variants by… Show more
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