Article

Functionally informed annotation influences pathway-specific polygenic risk and disease inference in Alzheimer’s disease

2026-05-26

Abstract excerpt

Pathway-specific polygenic risk scores (pathway-PRS) measure aggregate risk across single nucleotide variants (SNPs) annotated to pathway genes. In most applications, SNP-to-gene annotation is based on SNP proximity to gene boundaries. This approach is ill-suited for incorporating non-coding SNPs, which can regulate gene expression over long distances and represent a large proportion of risk variants in complex di...

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Literature Corpus work: 266a9b57-dce4-50f8-8180-510fefb99b24
DOI: 10.64898/2026.05.25.26353905

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