Evaluation of variant‐to‐gene annotation strategies in Alzheimer's Disease pathway‐specific polygenic risk score construction
The inclusion of regulatory variants in AD pathway-PRS lead to the prioritization of protein and cellular localization pathways over amyloid pathways. Additional strategies for pathway-PRS construction, such as incorporating functional annotations as priors, will be tested in future work.
Authors
- Cornelia M. van Duijn (ORCID: https://orcid.org/0000-0002-2374-9204)
- Otto Valladares (ORCID: https://orcid.org/0000-0001-8055-2187)
- Adam C. Naj (ORCID: https://orcid.org/0000-0002-9621-2942)
- Jacob Haut
- Yi Zhao (ORCID: https://orcid.org/0009-0006-8399-0362)
- Taha Iqbal
- Katrina Bazemore (ORCID: https://orcid.org/0000-0002-2006-623X)
- Joseph Manuel
- Jin Sha (ORCID: https://orcid.org/0000-0001-6386-5368)
- Gerald D. Schellenberg
- Li‐San Wang
- Wan‐Ping Lee
- Jin Jin
Institutions
- University of Oxford (GB)
- University of Pennsylvania (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/alz70855_105686
- Primary Topic
- Genetic Associations and Epidemiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00