Using nanopore sequencing in Parkinson's disease (GBA)

The GBA gene is important in PD, but analysis is complex due to the nearby pseudogene, and variants arising by recombination are frequently missed. We present two complementary methods to resolve all variants: targeted long read (Nanopore) sequencing, and Gauchian, an algorithm for dedicated analysis of short read (Illumina) whole genome sequencing. We used PPMI samples to validate Gauchian findings in existing WGS data from AMP-PD. We noted some errors in the AMP-PD analysis, which we discuss in detail in our paper https://www.medrxiv.org/content/10.1101/2021.11.12.21266253v1