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.