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
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
Burden analysis showed no association between rare variants in DNAJC13 and PD, however, association analysis within common nonsynonymous variants nominated five variants within DNAJC13, and these associations require further investigation.
C. Avila, M. Isayan, Y. Mecheri et al.· Movement Disorders· 0 citations
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