Author

Y. Tay

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Open access Sep 2026

Analysis of east Asian Parkinson's disease Genomes Identifies Novel Susceptibility Loci and Functional Regulatory Variation

Background: Parkinson disease (PD) is a genetically complex neurodegenerative disorder, but most genetic discoveries have been derived from populations of European ancestry, limiting the understanding of ancestry-specific genetic risk. Methods: This GWAS included 5,825 East Asian participants (3,043 patients with PD an...

Q. Sun, E. Ng, T. S. Toh et al. · medRxiv · 0 citations

Open access Jul 2026

CNV-Finder: streamlining copy number variation discovery

Abstract Motivation Copy Number Variations (CNVs) play pivotal roles in complex disease etiology, often requiring large sample sizes to analyze disease associations. While genotyping arrays offer a cost-effective approach for CNV detection using Log R Ratio (LRR) and B Allele Frequency (BAF) signals, existing independe...

Nicole Kuznetsov, Kensuke Daida, M. Makarious et al. · Bioinformatics Advances · 0 citations

Aug 2026

GCH1 genetic variation as a prognostic factor in Parkinson disease across populations

GCH1 pathogenic variants were associated with a clinically distinct phenotype characterized by earlier disease onset and slower progression of motor complications, suggesting that GCH1 genetic variants may serve as genetic biomarkers for patient stratification and prognosis in PD.

J. Shin, M. T. Periñán, J. W. Jang et al. · medRxiv · 0 citations