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

ABSTRACT:

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 diseases. We used NanoOK for quality metrics, NGMLR to align data (after comparing with GraphMap), Nanopolish and Sniffles to call variants, and WhatsHap for phasing.

Results

We detected all known missense mutations in these samples, including the common p.N409S (N370S) and p.L483P (L444P) in multiple samples, and nine rarer ones, as well as a splicing and a tr

SUBMITTER: Leija-Salazar M 

PROVIDER: S-EPMC6418358 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature