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

ConclusionThe Oxford Nanopore MinION can detect missense mutations and an exonic deletion in this difficult gene, with the added advantages of phasing and intronic analysis. It can be used as an efficient research tool, but additional work is required to exclude all recombinants.

Source: Molecular Genetics & Genomic Medicine - January 13, 2019 Category: Genetics & Stem Cells Authors: Melissa Leija ‐Salazar, Fritz J. Sedlazeck, Marco Toffoli, Stephen Mullin, Katya Mokretar, Maria Athanasopoulou, Aimee Donald, Reena Sharma, Derralynn Hughes, Anthony H.V. Schapira, Christos Proukakis Tags: METHOD Source Type: research