Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

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.

Bibliographic Details
Main Authors: Marco Toffoli, Xiao Chen, Fritz J. Sedlazeck, Chiao-Yin Lee, Stephen Mullin, Abigail Higgins, Sofia Koletsi, Monica Emili Garcia-Segura, Esther Sammler, Sonja W. Scholz, Anthony H. V. Schapira, Michael A. Eberle, Christos Proukakis
Format: Article
Language:English
Published: Nature Portfolio 2022-07-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-022-03610-7

Internet

https://doi.org/10.1038/s42003-022-03610-7

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