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

20.3K
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.
20.3K
Genomics02:02

Genomics

39.4K
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...
39.4K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

6.7K
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...
6.7K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.1K
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...
15.1K
DNA as a Genetic Template02:05

DNA as a Genetic Template

27.1K
Two structural features of the DNA molecule provide a basis for the mechanisms of heredity: the four nucleotide bases and its double-stranded nature. The Watson-Crick model of double-helical DNA structure, proposed in 1952, drew heavily upon the X-ray crystallography work of researchers Rosalind Franklin and Maurice Wilkins. Watson, Crick, and Wilkins jointly received the Nobel Prize in Physiology or Medicine for their work in 1962. Franklin was, controversially, excluded from the prize for...
27.1K
Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

3.1K
3.1K

You might also read

Related Articles

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

Sort by
Same author

Synthesis and Biological Evaluation of a New Dihydroceramide Desaturase Inhibitor for the Treatment of MASLD.

Journal of medicinal chemistry·2026
Same author

Challenges in clinical translation of polygenic risk score analyses: A systematic review.

Genetics in medicine : official journal of the American College of Medical Genetics·2025
Same author

Review of autism spectrum disorder databases for the identification of candidate genes.

Database : the journal of biological databases and curation·2025
Same author

The promises and pitfalls of automated variant interpretation: a comprehensive review.

Briefings in bioinformatics·2025
Same author

A randomized trial of ascorbic acid for the prevention of post-reperfusion syndrome during liver transplantation.

Hepatology communications·2025
Same author

The synthetic TRPML1 agonist ML-SA1 mitigates intracellular lipid accumulation induced by antipsychotics in vitro by stimulating release of extracellular microvesicles.

Biochimica et biophysica acta. Molecular and cell biology of lipids·2025

Related Experiment Video

Updated: Dec 18, 2025

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.7K

Using conceptual modeling to improve genome data management.

Óscar Pastor1, Ana Palacio León1, José Fabián Román Reyes1

  • 1Universitat Politècnica de València.

Briefings in Bioinformatics
|June 14, 2020
PubMed
Summary

Genomic data overload hinders disease research. This study introduces conceptual models to organize and manage genomic data, improving the identification of reliable gene-disease relationships.

Keywords:
CSHGcase studyframeworkgenomic datainformation systems

More Related Videos

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

10.2K
Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
22:27

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Published on: May 6, 2010

410.9K

Related Experiment Videos

Last Updated: Dec 18, 2025

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.7K
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

10.2K
Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
22:27

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Published on: May 6, 2010

410.9K

Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Advances in genomic sequencing generate vast amounts of data.
  • Data is fragmented across numerous repositories in various formats and quality levels.
  • This heterogeneity complicates the identification of reliable gene-disease associations and can lead to misdiagnosis.

Purpose of the Study:

  • To present conceptual models as a solution for efficient genomic data management.
  • To enable researchers to extract valuable knowledge from complex genomic datasets.
  • To improve the reliability of identifying relationships between DNA variants and diseases.

Main Methods:

  • Utilizing conceptual models to structure and organize heterogeneous genomic data.
  • Developing a system for accessible, informative, and reliable data processing.
  • Focusing on relevant data to mitigate information overload.

Main Results:

  • Demonstrated a method to organize, store, and process genomic information effectively.
  • Enabled researchers to focus on pertinent data, reducing the impact of information overload.
  • Successfully applied the approach in an epilepsy case study.

Conclusions:

  • Conceptual models are crucial for managing large-scale genomic data.
  • The proposed approach enhances the ability to identify robust gene-disease links.
  • This facilitates more accurate clinical and research outcomes in genomics.