Comprehensive analysis of GBA using a novel algorithm for Illumina whole-genome sequence data or targeted Nanopore sequencing
Marco Toffoli, Xiao Chen, Fritz Joachim Sedlazeck, Chiao‐Yin Lee, Stephen Mullin, Abigail Higgins, Sofia Koletsi, Monica Emili Garcia‐Segura, Esther M. Sammler, Sonja W. Scholz, Anthony H.V. Schapira, Michael A. Eberle, Christos Proukakis
The paper presents two methods to accurately detect GBA variants and reciprocal recombinants, showing higher GBA variant frequency in Lewy body dementia compared to Parkinson's disease.
Communications Biology · Jul 6, 2022Peer-reviewedGenetic & Genomic Medicine