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

13 Jan 2019

Abstract excerpt

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 on the Oxford Nanopore MinION as an 8.9 kb amplicon from 102 individuals, including patients with Parkinson's and Gaucher...

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PMID: 30637984
DOI: 10.1002/mgg3.564

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