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

19.0K
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.
19.0K
Synteny and Evolution02:31

Synteny and Evolution

3.3K
John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
3.3K
Genetic Screens02:46

Genetic Screens

5.0K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.0K
Genomics02:02

Genomics

36.6K
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...
36.6K
Next-generation Sequencing03:00

Next-generation Sequencing

91.7K
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....
91.7K

You might also read

Related Articles

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

Sort by
Same author

Apollo 3: Multi-Species Genome Curation.

bioRxiv : the preprint server for biology·2026
Same author

Two Australian genome assemblies expand the genomic blueprint of giant kelp.

BMC genomics·2026
Same author

CLASH (Chromatin Loop Across-sample Score Harmonizer) quantifies the relative contributions of genetic variation, methylation, and CTCF occupancy on chromatin loop strength across individuals.

bioRxiv : the preprint server for biology·2026
Same author

Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures.

bioRxiv : the preprint server for biology·2026
Same author

A global map for introgressed structural variation and selection in humans.

Science (New York, N.Y.)·2026
Same author

Evaluating large language models for automated REDCap support ticket triage and response.

JAMIA open·2026
Same journal

Family of magnetic field-boosted superconductors in rhombohedral graphene.

Nature·2026
Same journal

What's the human cost of US research turmoil? A new film finds out.

Nature·2026
Same journal

Daily briefing: Ovaries start a second job after menopause.

Nature·2026
Same journal

Audio long read: Is the peptide craze backed by science? The promise behind the hype.

Nature·2026
Same journal

Scientists fight back against far-right plans to restrict academic freedom in Germany.

Nature·2026
Same journal

How AI can crack open the 'hidden curriculum' for neurodivergent students.

Nature·2026
See all related articles

Related Experiment Video

Updated: Jul 30, 2025

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

9.8K

A draft human pangenome reference.

Wen-Wei Liao1,2,3, Mobin Asri4, Jana Ebler5,6

  • 1Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.

Nature
|May 10, 2023
PubMed
Summary
This summary is machine-generated.

The Human Pangenome Reference Consortium released a draft human pangenome with 47 diverse genome assemblies. This new reference improves variant detection and structural variation analysis compared to the previous GRCh38.

More Related Videos

High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization
08:48

High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization

Published on: June 28, 2012

11.7K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K

Related Experiment Videos

Last Updated: Jul 30, 2025

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

9.8K
High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization
08:48

High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization

Published on: June 28, 2012

11.7K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K

Area of Science:

  • Genomics
  • Human Genetics
  • Bioinformatics

Background:

  • The existing human genome reference (GRCh38) has limitations in representing human genetic diversity.
  • A comprehensive pangenome is needed to capture a broader spectrum of human genetic variation.

Purpose of the Study:

  • To present the first draft of the human pangenome reference.
  • To improve the accuracy and completeness of human genome sequencing and variant analysis.

Main Methods:

  • Generated 47 phased, diploid genome assemblies from a genetically diverse cohort.
  • Aligned assemblies to create a draft pangenome, incorporating new sequences and gene duplications.
  • Evaluated the pangenome's performance in analyzing short-read sequencing data.

Main Results:

  • The pangenome assemblies cover >99% of expected sequence with >99% accuracy.
  • Added 119 million base pairs of polymorphic sequences and 1,115 gene duplications compared to GRCh38.
  • Reduced small variant discovery errors by 34% and increased structural variant detection by 104% using the draft pangenome.

Conclusions:

  • The draft human pangenome reference significantly enhances the detection and characterization of genetic variants.
  • This resource is crucial for advancing genomic research and understanding human diversity.
  • The pangenome enables more comprehensive analysis of structural variations across diverse populations.