# Analysis of functional genetic variants in RNA processing and expression

> **NIH NIH U01** · UNIVERSITY OF CALIFORNIA LOS ANGELES · 2020 · $297,803

## Abstract

Project Summary
The goal of this project is to functionally annotate genetic variants in post-transcriptional
regulation of RNA expression, which extends and complements the current focus of ENCODE
data analysis. In this supplement, we will systematically identify genetic variants that affect post-
transcriptional regulation in Alzheimer’s disease (AD), complementary to work in the currently
funded project. Recently, tremendous success has been achieved in constructing a catalog of
genetic variants in AD genomes. The next great challenge is to identify functional variants and
elucidate their potential roles in biological and disease processes. To this end, research efforts
have been directed to studying variants located in protein-coding, promoter, and splice site
regions due to their apparent impacts on gene expression. However, many of the newly
identified disease-associated variants reside in other non-coding regions, such as introns, that
may confer regulatory function to the related gene. The mechanisms of these variants have
been hard to decipher. It is expected that many of them may function at the post-transcriptional
level, thus affecting mRNA expression. However, how to accurately identify such functional
genetic variants remains a key question for AD research. To address this question, we will
develop novel high-throughput assays, combined with computational analysis and predictions,
to capture functional AD-relevant variants in post-transcriptional regulation. This work will allow
a previously unattained level of understanding of genetic variants in post-transcriptional
regulation in AD and provide new means to tackle the imperative task of functional annotations
of genetic variants.

## Key facts

- **NIH application ID:** 10122466
- **Project number:** 3U01HG009417-04S1
- **Recipient organization:** UNIVERSITY OF CALIFORNIA LOS ANGELES
- **Principal Investigator:** Xinshu Grace Xiao
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $297,803
- **Award type:** 3
- **Project period:** 2020-07-15 → 2021-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10122466

## Citation

> US National Institutes of Health, RePORTER application 10122466, Analysis of functional genetic variants in RNA processing and expression (3U01HG009417-04S1). Retrieved via AI Analytics 2026-06-02 from https://api.ai-analytics.org/grant/nih/10122466. Licensed CC0.

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