Neurodegenerative Lysosomal Diseases Approached by Next Generation Sequencing

Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Nogueira, Célia; Vilarinho, Laura; Alves, Sandra

http://hdl.handle.net/10400.18/5495

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Authors

Encarnação, Marisa

Coutinho, Maria Francisca

Abstract(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.