Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.

ABSTRACT: Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem metabolic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the cells. Although biochemical enzymatic assays are considered the gold standard for diagnosis of symptomatic patients, genotyping is a requirement for inclusion in enzyme replacement programs and is a prerequisite for carrier tests in relatives and DNA-based prenatal diagnosis. The emerging next-generation sequencing (NGS) technologies are now offering a powerful diagnostic tool for genotyping LSDs patients by providing faster, cheaper, and higher-resolution testing options, and are allowing to unravel, in a single integrated workflow SNVs, small insertions and deletions (in

SUBMITTER: La Cognata V 

PROVIDER: S-EPMC9405548 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature