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

Melissa Leija-SalazarFritz J SedlazeckMarco ToffoliStephen MullinKatya MokretarMaria AthanasopoulouAimee DonaldReena SharmaDerralynn HughesAnthony H V SchapiraChristos Proukakis

Published in: Molecular genetics & genomic medicine (2019)

The 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.

Keyphrases

copy number
single molecule
intellectual disability
solid state
genome wide
autism spectrum disorder
gene expression
label free
transcription factor
data analysis