Project Details
Description
Alzheimer’s Disease (AD) is a complex, heterogeneous disorder, and risk to AD is influenced
partly by genetics. Understanding the genetic mechanisms that play a role in disease is important
as it can lead to a better understanding of the underlying molecular mechanisms, and can identify
new gene targets for therapeutic development.
We propose gene centric approaches that leverage diverse omics datasets developed specifically
for AD (such as AMP-AD), but also more general resources such as GTEx, PsychENCODE,
ENCODE, and Roadmap Epigenomics. We will develop quantile tools for transcriptome-wide
association studies (TWAS), which are generalizations of TWAS to more complex and
heterogenous scenarios where the linear assumptions in standard TWAS are likely to fail. We will
also develop gene-based tests using data from WGS by jointly analyzing coding and regulatory
variation in predicted regulatory elements likely to affect the expression of a gene under
consideration.
We will implement these analytical tools into software packages to be made freely available to the
community. We will also apply them to some of the largest existing genetic datasets for AD, both
GWAS and WGS, and will make the results available to the community on a specially designed
web portal.
Status | Active |
---|---|
Effective start/end date | 5/1/24 → 4/30/25 |
ASJC Scopus Subject Areas
- Genetics
- Clinical Neurology
- Neurology
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