Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

Abstract More than 900 variants have been described in the GLA gene. Some intronic variants and copy number variants in GLA can cause Fabry disease but will not be detected by classical Sanger sequence. We aimed to design and validate a method for sequencing the GLA gene using long-read Oxford Nanop...

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Autores principales: Albina Nowak, Omer Murik, Tzvia Mann, David A. Zeevi, Gheona Altarescu
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
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Acceso en línea:https://doaj.org/article/d6d1074245474c7a9812c07b568074f0
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