Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases

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

http://hdl.handle.net/10400.18/5502

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Autores

Coutinho, Maria Francisca

Resumo(s)

Molecular genetic testing has not been used extensively as the primary diagnostic test for LSDs but this may change with the advent of rapid, reliable and affordable high-throughput DNA sequencing, the so called next generation sequencing. The aim of this work was to develop a next-generation sequencing (NGS)-based workflow for the identification of variations in exons and their intronic flanking regions in genes involved in lysosomal function.

Palavras-chave

Lysosomal Storage Disorders (LSD) Next Generation Sequencing Doenças Lisossomais de Sobrecarga Painéis de NGS Doenças Genéticas

URI

http://hdl.handle.net/10400.18/5502

Coleções

DGH - Posters/abstracts em congressos internacionais

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