학술논문
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene
Document Type
article
Author
Source
Communications Biology, Vol 5, Iss 1, Pp 1-10 (2022)
Subject
Language
English
ISSN
2399-3642
Abstract
Two methods fully resolve the GBA gene: Gauchian, a tool for short-read, whole-genome sequencing data analysis, and Oxford Nanopore sequencing after PCR enrichment. The approach improves our understanding of the relationship between GBA, Gaucher disease and Parkinson disease.