Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

22.3K
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.
22.3K
Next-generation Sequencing03:00

Next-generation Sequencing

102.2K
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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
102.2K
RNA-seq03:21

RNA-seq

12.7K
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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
12.7K
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

13.9K
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.
Challenges of the Maxam-Gilbert Method
The...
13.9K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

7.3K
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...
7.3K
Sanger Sequencing01:57

Sanger Sequencing

780.9K
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...
780.9K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity.

Genome biology·2026
Same author

Colibactin-associated mutations in the human colon appear to reflect anatomy and early exposure, not oncogenesis.

medRxiv : the preprint server for health sciences·2026
Same author

Transcription factor cooperativity at a GATA3 tandem DNA sequence determines oncogenic enhancer-mediated activation.

Cell reports·2026
Same author

A family portrait of the genomic factors shaping tandem repeat mutagenesis.

bioRxiv : the preprint server for biology·2026
Same author

The selective dynamics of interruptions at short tandem repeats.

Genetics·2026
Same author

The performance of genetic-constraint metrics varies significantly across the human noncoding genome.

bioRxiv : the preprint server for biology·2026
Same journal

Integrated lipidomic and transcriptomic profiling of the host response in human malaria.

Genome biology·2026
Same journal

Centromeric satellite expansion drives genome evolution in the snowy owl.

Genome biology·2026
Same journal

Mapping the landscape of allele-specific expression in porcine genomes.

Genome biology·2026
Same journal

Genomic sequence evolution underlying human neocortical interareal diversification.

Genome biology·2026
Same journal

Regulatory mechanisms driven by functional 3'-UTR variants in alcohol use disorder and related traits.

Genome biology·2026
Same journal

A longitudinal single-nucleus transcriptomic atlas of bovine placentation reveals dynamic cellular hierarchies and regulatory programs.

Genome biology·2026
See all related articles

Related Experiment Video

Updated: Apr 17, 2026

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

6.1K

Extending reference assembly models.

Deanna M Church, Valerie A Schneider, Karyn Meltz Steinberg

    Genome Biology
    |February 5, 2015
    PubMed
    Summary
    This summary is machine-generated.

    The human genome reference assembly needs updates to accurately reflect genetic diversity. Enhancements in analysis tools and data formats are essential for comprehensive genomic studies.

    More Related Videos

    Novel Sequence Discovery by Subtractive Genomics
    09:40

    Novel Sequence Discovery by Subtractive Genomics

    Published on: January 25, 2019

    9.3K
    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
    09:37

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

    Published on: August 15, 2019

    10.6K

    Related Experiment Videos

    Last Updated: Apr 17, 2026

    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

    6.1K
    Novel Sequence Discovery by Subtractive Genomics
    09:40

    Novel Sequence Discovery by Subtractive Genomics

    Published on: January 25, 2019

    9.3K
    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
    09:37

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

    Published on: August 15, 2019

    10.6K

    Area of Science:

    • Genomics
    • Bioinformatics
    • Human Genetics

    Background:

    • The human genome reference assembly is fundamental for genomic research.
    • Current assembly models and assumptions may not fully capture human genetic diversity.
    • Accurate genomic data analysis relies on a robust reference assembly.

    Purpose of the Study:

    • To highlight the need for revising the human genome reference assembly.
    • To emphasize the importance of representing human sequence diversity.
    • To identify requirements for improved genomic analysis.

    Main Methods:

    • Review of current human genome reference assembly methodologies.
    • Analysis of existing assumptions in genome assembly.
    • Identification of limitations in representing genetic diversity.

    Main Results:

    • Current human genome reference assembly models require revision.
    • Existing analysis assumptions are insufficient for full diversity representation.
    • Gaps exist in tools and data formats for comprehensive genomic analysis.

    Conclusions:

    • Revising the human genome reference assembly is critical for accurate genomic research.
    • Incorporating human sequence diversity into the reference assembly is necessary.
    • Development of advanced analysis tools and data reporting formats is essential.