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Article

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

Communications biology - 6 Jul 2022

Toffoli Marco, Chen Xiao, Sedlazeck Fritz J, Lee Chiao-Yin, Mullin Stephen, Higgins Abigail, Koletsi Sofia, Garcia-Segura Monica Emili, Sammler Esther, Scholz Sonja W, Schapira Anthony H V, Eberle Michael A, Proukakis Christos

Abstract excerpt

GBA variants carriers are at increased risk of Parkinson's disease (PD) and Lewy body dementia (LBD). The presence of pseudogene GBAP1 predisposes to structural variants, complicating genetic analysis. We present two methods to resolve recombinant alleles and other variants in GBA: Gauchian, a tool for short-read, whole-genome sequencing data analysis, and Oxford Nanopore sequencing after PCR enrichment. Both...

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Identifiers

PMID: 35794204
DOI: 10.1038/s42003-022-03610-7
PMCID: PMC9259685

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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