Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Pâmella BorgesGabriela PasqualimRoberto GiuglianiFilippo Pinto E VairoUrsula Matte

Published in: Orphanet journal of rare diseases (2020)

We report on an approach to estimate the prevalence of different types of MPS based on publicly available population-based genomic data, which may help health systems to be better prepared to deal with these conditions and provide support to initiatives on diagnosis and management of MPS.

Keyphrases

risk factors
electronic health record
quality improvement
big data
copy number
gene expression