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

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

doi:10.1038/s42003-022-03610-7

Communications Biology (Jul 2022)

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

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

Affiliations

Marco Toffoli: Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London
Xiao Chen: Illumina Inc.
Fritz J. Sedlazeck: Human Genome Sequencing Center, Baylor College of Medicine
Chiao-Yin Lee: Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London
Stephen Mullin: Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London
Abigail Higgins: Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London
Sofia Koletsi: Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London
Monica Emili Garcia-Segura: Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London
Esther Sammler: MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee
Sonja W. Scholz: Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke
Anthony H. V. Schapira: Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London
Michael A. Eberle: Illumina Inc.
Christos Proukakis: Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London

DOI: https://doi.org/10.1038/s42003-022-03610-7
Journal volume & issue: Vol. 5, no. 1
pp. 1 – 10

Abstract

Read online

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.

Published in Communications Biology

ISSN: 2399-3642 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General)
Website: https://www.nature.com/commsbio/

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