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
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
The publicly available LRRK2 Browser represents an open-access, multi-ancestry resource to support LRRK2 variant interpretation and aims to enhance the translational potential of genetic and functional data for precision medicine and the implementation of gene-targeted therapies in diverse populations.
S. Grant, V. van Midden, Elias Fernandez-Toledo et al.· medRxiv· 0 citations
Functional effect sizes correlated with pathway activation in patient-derived immune cells, altogether providing a framework for ACMG-based variant interpretation in which kinase activation can support PS3 functional evidence for reclassification of variants.
Anthea Cheung, Neringa Pratuseviciute, Kirsten Black et al.· medRxiv· 0 citations
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