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Publicação
Neurodegenerative Lysosomal Diseases Approached by Next Generation Sequencing
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Orientador(es)
Resumo(s)
Introduction: Lysosomal Storage Disorders (LSD) are a heterogenous group of rare, monogenic
diseases with significant phenotypic overlap and clinical variability. For this reason, the
diagnosis is difficult and time consuming, with multiple tests/samples being often required before
a definitive diagnosis is reached. Next Generation Sequencing (NGS) is changing this scenario
by allowing the variant assessment at a large scale in a single run. The aim of this work, was to
develop an NGS-based workflow for the identification of LSD-causing variants.
Methods: We designed a panel including exons and intronic flanking regions from 96 genes
involved in lysosome homeostasis and function. The workflow was performed using an Agilent
SureSelect QXT Target Enrichment protocol followed by sequencing in an Illumina MiSeq®
platform. For alignment and variant anotation the softwares Surecall and wANNOVAR were
used.
Descrição
Palavras-chave
Lysosomal Storage Disorders (LSD) Next Generation Sequecing Painel de Genes Doenças Lisossomais de Sobrecarga Doenças Genéticas