Although Alzheimer's disease (AD) has a polygenic architecture, with numerous associated single-nucleotide polymorphisms (SNPs) identified, the contribution of structural variants (SVs) is unclear. In this study, using long-read (n = 11) and short-read (n = 3,190) sequencing data from the Chinese population, we show th...
INTRODUCTION
GCH1 has been implicated in Parkinson's disease (PD), but its risks variants and associations are not well defined.
OBJECTIVES
Our goal was to investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant.
METHODS
We first identified a segregating GCH1 p.Ser80Asn variant in...
Yi-Wen Tay, A. Lee, J. Schee et al.· Movement Disorders· 0 citations
Understanding of the genetic architecture of AD in the context of its main genetic driver is improved, and APOE-stratified insights may help understand and overcome side effects, inform clinical trial enrollment strategies, and create the scientific basis for targeted, mechanism-driven therapies in neurodegenerative di...
J. Thomassen, H. Leonard, Brittany Ulms et al.· Nature Genetics· 0 citations
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