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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259685/
https://www.ncbi.nlm.nih.gov/pubmed/35794204
http://dx.doi.org/10.1038/s42003-022-03610-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259685/
https://www.ncbi.nlm.nih.gov/pubmed/35794204
http://dx.doi.org/10.1038/s42003-022-03610-7

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