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Related Concept Videos

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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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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Evolutionary Relationships through Genome Comparisons02:54

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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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In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
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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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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Related Experiment Video

Updated: Aug 19, 2025

Novel Sequence Discovery by Subtractive Genomics
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Sequencing and assembling bear genomes: the bare necessities.

Courtney Willey1, Ron Korstanje2

  • 1The Jackson Laboratory, Bar Harbor, ME, 04609, USA.

Frontiers in Zoology
|December 1, 2022
PubMed
Summary
This summary is machine-generated.

Bears possess unique genetic adaptations that could unlock secrets to human diseases. Developing well-annotated bear genomes is crucial for understanding these adaptations and advancing biomedical research.

Keywords:
BearGene expressionGenomeSequenceUrsidae

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Area of Science:

  • Genomics
  • Comparative Genomics
  • Conservation Genomics

Background:

  • Bears exhibit unique genetic adaptations, such as organ shutdown during hibernation and resistance to metabolic diseases, offering potential insights into human health.
  • Investigating these adaptations at a molecular level is limited by the lack of essential research tools, particularly comprehensive genome assemblies.
  • Well-annotated reference genomes are critical for identifying genetic variations linked to biomedical-relevant traits in bears.

Purpose of the Study:

  • To review the current status of genome assemblies for all eight extant bear species.
  • To identify existing gaps in bear genome annotation and assembly.
  • To highlight the future benefits of these genomic resources for human biomedical applications and bear conservation.

Main Methods:

  • Literature review of existing bear genome assembly data.
  • Assessment of annotation quality and completeness across species.
  • Comparative analysis of genomic features and their potential association with unique bear traits.

Main Results:

  • The current state of genome assemblies for the eight bear species is variable, with significant gaps in annotation and completeness.
  • Key genomic features, including genetic variants, gene expression, and transposons, require further detailed analysis.
  • The identified gaps hinder the full exploitation of bear genetics for biomedical research.

Conclusions:

  • High-quality, well-annotated bear reference genomes are essential for advancing our understanding of unique adaptations.
  • These genomic resources hold significant potential for informing human biomedical research and therapeutic strategies.
  • Improving bear genome assemblies will also directly benefit conservation efforts by enabling better population management and genetic diversity assessments.