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Genome-wide Association Studies-GWAS01:11

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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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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Updated: Jul 19, 2025

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
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ggcoverage: an R package to visualize and annotate genome coverage for various NGS data.

Yabing Song1, Jianbin Wang2

  • 1School of Life Sciences, Tsinghua University, Beijing, China. songyb18@mails.tsinghua.edu.cn.

BMC Bioinformatics
|August 9, 2023
PubMed
Summary

ggcoverage is a new R package for visualizing and annotating next-generation sequencing (NGS) data. It offers flexibility and customization for genome coverage plots across multiple groups and omics, improving data interpretation.

Keywords:
Genome annotationGenome coverageMulti-omicsNext-generation sequencingVisualization

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Area of Science:

  • Bioinformatics
  • Computational Biology
  • Genomics

Background:

  • Visualizing genome coverage is essential for interpreting next-generation sequencing (NGS) data.
  • Integrating genome annotations with coverage data presents challenges due to diverse NGS data types and annotation requirements.
  • Existing visualization tools often lack flexibility, user-friendliness, and comprehensive annotation capabilities.

Purpose of the Study:

  • To introduce ggcoverage, an R package designed for flexible and efficient visualization and annotation of multi-group and multi-omics genome coverage.
  • To provide a user-friendly solution that overcomes limitations of existing tools by offering robust preprocessing and extensive annotation options.

Main Methods:

  • Developed ggcoverage as an R package supporting BAM, BigWig, BedGraph, and TSV input formats.
  • Integrated state-of-the-art tools for read normalization, consensus peak generation, and track data loading.
  • Enabled easy superimposition of diverse annotations (e.g., for WGS/WES, RNA-seq, ChIP-seq) and protein coverage visualization.

Main Results:

  • ggcoverage facilitates the visualization and annotation of genome coverage for multi-groups and multi-omics data.
  • The package offers efficient preprocessing capabilities, including read normalization and consensus peak generation.
  • Generated plots are publication-quality and customizable using ggplot2, supporting various NGS data types and protein coverage.

Conclusions:

  • ggcoverage provides a flexible, programmable, efficient, and user-friendly solution for visualizing and annotating genome coverage.
  • The package enhances the interpretation of complex genomic and multi-omics datasets.
  • ggcoverage is available on GitHub with comprehensive vignettes for user guidance.