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

PMID:30637984
Leija-Salazar M , Sedlazeck FJ , Toffoli M , Mullin S , Mokretar K , Athanasopoulou M , Donald A , Sharma R , Hughes D , Schapira AHV , Proukakis C
Mutations in GBA cause Gaucher disease when biallelic and are strong risk factors for Parkinson's disease when heterozygous. GBA analysis is complicated by the nearby pseudogene. We aimed to design and validate a method for sequencing GBA using long reads.


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