Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

BACKGROUND: Mutations in GBA cause Gaucher disease when biallelic and are strong risk factors for Parkinson's disease when heterozygous. GBA analysis is complicated by the nearby pseudogene. We aimed to design and validate a method for sequencing GBA using long reads. METHODS: We sequenced GBA...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Leija‐Salazar, Melissa, Sedlazeck, Fritz J., Toffoli, Marco, Mullin, Stephen, Mokretar, Katya, Athanasopoulou, Maria, Donald, Aimee, Sharma, Reena, Hughes, Derralynn, Schapira, Anthony H.V., Proukakis, Christos
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
Témata:
Method
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6418358/
https://ncbi.nlm.nih.gov/pubmed/30637984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.564
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