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Related Concept Videos

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RNA-seq

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Updated: Feb 22, 2026

Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq
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PETScan: score-based genome-wide association analysis of RNA-Seq and ATAC-Seq data.

Yajing Hao1, Tal Kafri2,3,4, Fei Zou1,5

  • 1Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

Bioinformatics (Oxford, England)
|February 20, 2026
PubMed
Summary
This summary is machine-generated.

PETScan efficiently analyzes gene expression and chromatin accessibility data, improving systems biology insights. This tool enhances genome-wide association studies by considering distant gene-regulatory element interactions.

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Area of Science:

  • Systems biology
  • Genomics
  • Bioinformatics

Background:

  • High-dimensional sequencing data like RNA-Seq (gene expression) and ATAC-Seq (chromatin accessibility) are crucial for systems biology.
  • Current methods often overlook long-range cis-regulatory interactions and fail to adequately model count-based sequencing data.
  • Understanding gene regulation requires analyzing associations between gene expression and chromatin accessibility.

Purpose of the Study:

  • To develop a computationally efficient method for genome-wide association analysis of RNA-Seq and ATAC-Seq data.
  • To address limitations of existing tools by incorporating distant regulatory element interactions and accommodating count-based data.
  • To provide a robust tool for uncovering gene regulatory mechanisms.

Main Methods:

  • Introduced PETScan, a PEak-Transcript Score-based association analysis method.
  • Utilized negative binomial models to accurately represent RNA-Seq count data.
  • Employed score tests and matrix calculations for computational efficiency, combined with empirical permutation and genomic control for valid p-value calculations.

Main Results:

  • PETScan demonstrated computational efficiency, achieving speeds three orders of magnitude faster than Wald tests.
  • The method identified significant gene-peak pairs comparable to existing approaches.
  • PETScan effectively analyzes genome-wide associations between gene expression and chromatin accessibility.

Conclusions:

  • PETScan offers a computationally efficient and statistically robust approach for analyzing high-dimensional sequencing data.
  • The tool enhances the study of gene regulatory mechanisms by considering both local and distant interactions.
  • PETScan provides valuable insights for systems biology research and is available as an R package.