# Quantitative and function analysis platform for repetitive genes and gene isoforms in pluripotency regulation and differentiations

> **NIH NIH R01** · OHIO STATE UNIVERSITY · 2022 · $600,000

## Abstract

PROJECT SUMMARY / ABSTRACT
Many researches have indicated the prevalence and important functions of repetitive genes and gene isoforms,
especially on stem cell biology and developmental biology. While the development of the existing techniques to
characterize transcriptome based on Next Generation Sequencing (NGS), has dramatically accelerated the
research of different transcriptomic events and has led to many important biological findings, the abundance
estimation of repetitive genes and genes isoforms remain a challenging problem. Hence, many downstream
quantitative analyses, such as differential expression analysis and network construction are hindered by this
limit. As the new long-read techniques have been optimized to convey robust sequencing data of transcriptome
with more unambiguous alignment, it brings in new discernible information that is useful for addressing certain
challenging but important transcriptomic problems. Our objective is to develop a series of bioinformatics
methods to perform more reliable quantitative and function analyses of repetitive genes and gene isoforms,
including abundance estimation, network construction and function prediction. Aim 1 is to identify quantification
errors and the incorrectly quantified genes and gene isoforms. Aim 2 is to solve the problem of quantification
by data integration. Aim 3 is to construct gene isoform network and find the possible isoform-specific functions
by network analysis. The methods will be applied to study the expression and function of repetitive genes and
gene isoforms in human stem cells and differentiations in Aim 4. These studies are anticipated to provide the
first bioinformatics platform for improve our understanding of repetitive genes and gene isoforms with complex
biomedical context in a comprehensive manner.

## Key facts

- **NIH application ID:** 10451490
- **Project number:** 5R01HG011469-02
- **Recipient organization:** OHIO STATE UNIVERSITY
- **Principal Investigator:** Kin Fai Au
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $600,000
- **Award type:** 5
- **Project period:** 2021-07-15 → 2023-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10451490

## Citation

> US National Institutes of Health, RePORTER application 10451490, Quantitative and function analysis platform for repetitive genes and gene isoforms in pluripotency regulation and differentiations (5R01HG011469-02). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10451490. Licensed CC0.

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