Workflow: Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
13th September 2018
Gaucher disease (GD), the most common lysosomal storage disorder, is caused by biallelic mutations in the GBA gene. Heterozygous mutations in this gene are also a significant risk factor for Parkinson’s disease and other disorders. The complex structure of the genomic region incorporating GBA, which includes multiple pseudogenes, complicates analysis using PCR and traditional short-read DNA sequencing techniques. Leija-Salazar et al.1 assessed the utility of long-read nanopore sequencing to overcome these challenges. The MinION provided rapid and comprehensive analysis of the entire ~8 kb GBA gene, allowing the detection and phasing of single nucleotide variants (SNVs) and deletions.