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Genome Annotation and Assembly

Genome Annotation and Assembly

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.

Evolutionary Relationships through Genome Comparisons

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...

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Related Experiment Video

Updated: Mar 21, 2026

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies

Published on: August 20, 2021

gEVAL - a web-based browser for evaluating genome assemblies.

William Chow¹, Kim Brugger², Mario Caccamo³

¹Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.

Bioinformatics (Oxford, England)

|May 7, 2016

Summary

This summary is machine-generated.

The gEVAL browser assesses genome assembly accuracy by comparing sequence data and physical maps. It identifies potential errors and offers improvement strategies for better genomic research.

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Last Updated: Mar 21, 2026

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Area of Science:

Genomics
Bioinformatics
Computational Biology

Background:

High-quality genome reference assemblies are crucial for most genomic analyses.
Assessing and improving the local accuracy of genome assemblies presents significant challenges.

Purpose of the Study:

To introduce gEVAL, a genome browser designed for interrogating and evaluating the accuracy of genome assemblies.
To provide tools for identifying and rectifying sequence and assembly errors.

Main Methods:

gEVAL compares genome assemblies against various datasets, including sequence alignments and physical maps.
It analyzes concordance, highlights allelic variations, low-complexity regions, and abnormal coverage.
The browser supports arbitrary annotation from sources like Ensembl and TrackHub.

Main Results:

gEVAL effectively identifies potential sequence and assembly errors by evaluating concordance across multiple data types.
It offers actionable strategies for improving genome assembly quality.
The tool visualizes critical assembly features, aiding researchers in detailed analysis.

Conclusions:

gEVAL is a valuable tool for assessing and improving genome assembly accuracy.
Its comprehensive analysis capabilities support researchers in validating and refining genomic data.
The browser is available as a web tool and downloadable software for diverse applications.