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AD Fine-mapping and MPRA

Chia-Yi Lee*, Ashvin Ravi*, Tzu-Chieh Huang, Briana Wyman, Ziyu Liu, Ariana Chriss, Jack Humphrey, David A. Knowles, Chris Cotsapas, Laura M. Huckins, Towfique Raj, Kristen J. Brennand

Pre-print: https://www.medrxiv.org/content/10.1101/2025.10.13.25337902v1.full.pdf

fig1_mpra (1)

This repository contains all analyses regarding this manuscript, "Regulatory landscape of Alzheimer’s Disease Variants in Human Microglia."

Fine-mapping Tables

Full AD fine-mapping results and variants split by method are included within the finemapping_full_results folder within this repository.

All Supplementary Tables can be found in the Supplementary_Tables_AD_MPRA.xlsx file. Variants within each supplementary table can also be queried via the R Markdown files provided in this README.md file.

Fine-mapping Analyses:

Figure 2a-b: Credible Set Summary

Figure 2c-e: Epigenomic Overlap Analysis

Figure 2f-g: ABC Enrichment Analysis

MPRA Analyses:

emVars full results prioritized in the MPRA are included within the emVars_results folder within this repository

All Variants Tested for Microglia MPRA

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