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Related Concept Videos

Genome Annotation and Assembly03:36

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 Comparisons02:54

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...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...

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Related Experiment Video

Updated: May 31, 2026

An Integrated Approach for Microprotein Identification and Sequence Analysis
09:37

An Integrated Approach for Microprotein Identification and Sequence Analysis

Published on: July 12, 2022

Improving pan-genome annotation using whole genome multiple alignment.

Samuel V Angiuoli1, Julie C Dunning Hotopp, Steven L Salzberg

  • 1Center for Bioinformatics and Computational Biology, University of Maryland, College Park, MD 20742, USA. angiuoli@umiacs.umd.edu

BMC Bioinformatics
|July 2, 2011
PubMed
Summary
This summary is machine-generated.

Genome annotation errors are common, especially in bacterial pan-genomes. Mugsy-Annotator, a new tool, identifies and helps correct these issues by comparing gene structures and suggesting improved annotations.

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

Related Experiment Videos

Last Updated: May 31, 2026

An Integrated Approach for Microprotein Identification and Sequence Analysis
09:37

An Integrated Approach for Microprotein Identification and Sequence Analysis

Published on: July 12, 2022

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies
12:08

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

Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Advances in sequencing technology enable rapid genome annotation and pan-genome comparisons.
  • Genome annotations often contain inconsistencies and errors, hindering comparative analysis.
  • There is a need for tools to compare and improve annotation quality across closely related genomes.

Purpose of the Study:

  • Introduce Mugsy-Annotator, a novel tool for evaluating genome annotation quality.
  • Identify orthologs and assess annotation consistency in prokaryotic genomes.
  • Highlight common annotation anomalies and assist re-annotation efforts.

Main Methods:

  • Utilize whole genome multiple alignment to compare prokaryotic genomes.
  • Employ Mugsy-Annotator to identify anomalies in annotated gene structures.
  • Evaluate annotation quality across species pan-genomes.

Main Results:

  • Mugsy-Annotator effectively identifies orthologs and evaluates annotation quality.
  • Common anomalies include inconsistently located translation initiation sites and disrupted genes.
  • These anomalies are prevalent in bacterial pan-genomes, particularly at initiation sites.

Conclusions:

  • Whole genome multiple alignment is efficient for identifying orthologs and annotation issues in bacterial pan-genomes.
  • Annotation inconsistencies can inflate perceived genomic variation within a species.
  • Mugsy-Annotator aids re-annotation by suggesting edits for improved annotation consistency.