CGG, CAG, and GAA: genome-wide comparison of the disease linked Trinucleotide short tandem repeat

Short tandem repeats (STRs) are tracts of 1–6 bp DNA motifs repeated in a head-to-tail fashion, collectively accounting for approximately 3% of the human genome. Among these, trinucleotide STRs hold particular relevance due to their involvement in human genetic disorders, with CGG, CAG, and GAA repeats being causative of Fragile X Syndrome, Huntington’s Disease, and Friedreich’s Ataxia, respectively. In this study, we systematically examined the genomic distribution, abundance, repeat length, and polymorphism of 5,963 CGG, 11,220 CAG, and 16,105 GAA loci across a cohort of 191 healthy individuals. Marked differences were observed between the three repeat classes. CGG STRs, while the least abundant, were strongly enriched within exonic and promoter regions and exhibited the highest levels of polymorphism, particularly in genic regions. GAA STRs were by far the most abundant and displayed the greatest overall variability, with the majority located in intergenic and intronic regions, but s..., , # CGG, CAG, and GAA: genome-wide comparison of the disease linked Trinucleotide short tandem repeat

Dataset DOI: [10.5061/dryad.5tb2rbpgt](10.5061/dryad.5tb2rbpgt)

## Description of the data and file structure

## Project Title

**CGG, CAG, and GAA: Genome-wide comparison of the Disease Linked Trinucleotide Short Tandem Repeats**

## Overview

Short tandem repeats (STRs) of trinucleotide motifs play distinct roles in genome biology and human disease. This project focuses on the distribution, variability, and polymorphism of **CAG**, **CGG**, and **GAA** repeats—associated with **Huntington’s Disease**, **Fragile X Syndrome**, and **Friedreich’s Ataxia**, respectively—across **191 healthy genomes**.

---

## Directory Contents

The dataset is organized into several CSV files, grouped by **repeat motif** and **analysis type**:

---

### **1. Summary Files by Motif**

For each repeat class (CAG, CGG, GAA), the following summary files are included:

| File Name | ..., I confirm that we have received explicit consent and all data has been de-identified .