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Related Experiment Video

Updated: May 29, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Computational Tools for Studying Genome Structural Variation.

Xingyu Chen^1,2, Siyu Wei², Chen Sun²

¹Dr. Neher's Biophysics Laboratory for Innovative Drug Discovery, State Kay Laboratory of Quality Research in Chinese Medicine & Faculty of Chinese Medicine, Macau University of Science and Technology, Taipa, China.

Omics : a Journal of Integrative Biology

|February 5, 2025

Summary

This review catalogs 175 computational tools for detecting and analyzing structural variations (SVs) in human DNA. It aids researchers in selecting optimal tools for advancing genomic studies and understanding diseases impacting planetary health.

Keywords:

computational biology computational tools genome next-generation sequencing omics data analysis structural variation

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Area of Science:

Genomics
Bioinformatics
Computational Biology

Background:

Structural variations (SVs) are DNA alterations impacting human health and disease.
Advancements in sequencing technologies offer new insights into SVs.
A wide array of SV detection and analysis tools exist, posing challenges for researchers.

Purpose of the Study:

To review and catalog computational tools for structural variation analysis.
To summarize the features, strengths, and limitations of SV tools.
To guide researchers in selecting optimal tools for human genomics research.

Main Methods:

Systematic review of 175 tools developed over the past two decades.
Categorization of tools based on function (detection, annotation, visualization, downstream analysis).
Analysis of tools across different sequencing technology platforms (short-read, long-read).

Main Results:

A comprehensive catalog of 175 SV-related computational tools is presented.
Features, strengths, and limitations of each tool are summarized.
Tools are organized by their application and compatibility with various sequencing technologies.

Conclusions:

Effective selection of SV tools is crucial for advancing genomic research.
This review facilitates the acceleration of systems science and planetary health innovations.
The catalog serves as a valuable resource for researchers studying structural variations in human genomics.