Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

Abstract Background In this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The population-based allele frequencies were used to identify potential disease-c...

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Bibliographic Details
Main Authors: Pâmella Borges, Gabriela Pasqualim, Roberto Giugliani, Filippo Vairo, Ursula Matte
Format: Article
Language:English
Published: BMC 2020-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mucopolysaccharidoses (MPS)
Estimated prevalence
Exome aggregation consortium (ExAC)
Genome aggregation database (gnomAD)
In silico analysis
Online Access:http://link.springer.com/article/10.1186/s13023-020-01608-0

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