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

Ligand Binding and Linkage00:49

Ligand Binding and Linkage

4.8K
Allosteric proteins have more than one ligand binding site; the binding of a ligand to any of these sites influences the binding of ligands to the other sites. When a protein is allosteric, its binding sites are called coupled or linked.  In the case of enzymes, the site that binds to the substrate is known as the active site and the other site is known as the regulatory site. When a ligand binds to the regulatory site, this leads to conformational changes in the protein that can influence...
4.8K
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

18.8K
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.
18.8K
Ligand Binding Sites02:40

Ligand Binding Sites

12.8K
Proteins are dynamic macromolecules that carry out a wide variety of essential processes; however, the activities of most proteins depend on their interactions with other molecules or ions, known as ligands.
Protein-ligand interactions are quite specific; even though numerous potential ligands surround a cellular protein at any given time, only a particular ligand can bind to that protein. Moreover, a ligand binds only to a dedicated area on the surface of the protein, known as the...
12.8K
C4 Pathway and CAM01:27

C4 Pathway and CAM

45.5K
Most plants use the C3 pathway for carbon fixation. However, some plants, such as sugar cane, corn, and cacti that grow in hot conditions, use alternative pathways to fix carbon and conserve energy loss due to photorespiration. Photorespiration is the process that occurs when the oxygen concentration is high. Under such conditions, the rubisco enzyme in the Calvin cycle binds O2 instead of CO2, which halts photosynthesis and consumes energy.
C4 Pathway
The C4 pathway is used by plants such as...
45.5K
Calibration Curves: Linear Least Squares01:20

Calibration Curves: Linear Least Squares

1.3K
A calibration curve is a plot of the instrument's response against a series of known concentrations of a substance. This curve is used to set the instrument response levels, using the substance and its concentrations as standards. Alternatively, or additionally, an equation is fitted to the calibration curve plot and subsequently used to calculate the unknown concentrations of other samples reliably.
For data that follow a straight line, the standard method for fitting is the linear...
1.3K
Structural Classification of Joints01:20

Structural Classification of Joints

3.4K
Joints, also known as articulations, are classified based on their structural characteristics, i.e., based on whether the articulating surfaces of the adjacent bones are directly connected by fibrous connective tissue or cartilage, or whether the articulating surfaces contact each other within a fluid-filled joint cavity. These differences serve to divide the joints of the body into three structural classifications.
A fibrous joint is where the adjacent bones are united by fibrous connective...
3.4K

You might also read

Related Articles

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

Sort by
Same author

The Human Pleiotropic Map of GWAS Associations and Therapeutic Implications.

bioRxiv : the preprint server for biology·2026
Same author

Expression Atlas in 2026: enabling FAIR and open expression data through community collaboration and integration.

Nucleic acids research·2025
Same author

Taming the reference genome jungle: the refget sequence collection standard.

bioRxiv : the preprint server for biology·2025
Same author

Young KRAB-zinc finger gene clusters are highly dynamic incubators of ERV-driven genetic heterogeneity in mice.

Nature communications·2025
Same author

Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres.

Nature genetics·2025
Same author

The International Health Cohorts Consortium (IHCC) advances population health research and genomic discovery.

Communications medicine·2025
Same journal

metaLoc: protein localisation prediction workflow.

Bioinformatics advances·2026
Same journal

Fuscan: a robust DNA fusion caller for targeted sequencing data in cancer diagnostics.

Bioinformatics advances·2026
Same journal

Correction to: Pathogenicity patterns in cytochrome P450 family.

Bioinformatics advances·2026
Same journal

Region-aware bridge modeling enables interpretable mesoscale representation of spatial transcriptomic tissue sections.

Bioinformatics advances·2026
Same journal

Microbiome differential abundance methodologies to detect relevant taxa associated with chemotherapy toxicity rate in colorectal cancer.

Bioinformatics advances·2026
Same journal

maldipickr dereplicates microbial MALDI-TOF spectra to facilitate multiplexed isolation.

Bioinformatics advances·2026
See all related articles

Related Experiment Video

Updated: Jul 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

CMAT: ClinVar Mapping and Annotation Toolkit.

April Shen1, Marcos Casado Barbero1, Baron Koylass1

  • 1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom.

Bioinformatics Advances
|February 22, 2024
PubMed
Summary
This summary is machine-generated.

CMAT accurately enriches ClinVar human variation data with disease ontology associations. This software toolkit and protocol improve understanding of clinical significance and functional consequences for genetic variations.

More Related Videos

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.0K
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

9.7K

Related Experiment Videos

Last Updated: Jul 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.0K
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

9.7K

Area of Science:

  • Genomics
  • Bioinformatics
  • Clinical Genetics

Background:

  • Semantic ontology mapping of clinical descriptors to disease outcomes is crucial for understanding human variation.
  • ClinVar is a primary resource for human genetic variations with established clinical significance.
  • Accurate annotation of genetic variants is essential for clinical interpretation.

Purpose of the Study:

  • To present CMAT (Clinical Mapping and Annotation Toolkit), a novel software toolkit and curation protocol.
  • To enable accurate enrichment of ClinVar releases with disease ontology associations.
  • To facilitate the annotation of complex functional consequences for human genetic variations.

Main Methods:

  • Development of the CMAT software toolkit.
  • Establishment of a standardized curation protocol for ontology mapping.
  • Integration of semantic mappings into ClinVar data releases.

Main Results:

  • CMAT provides accurate disease ontology associations for clinical descriptors.
  • The toolkit enables the annotation of complex functional consequences.
  • Enriched ClinVar releases offer improved data for genetic variation interpretation.

Conclusions:

  • CMAT enhances the clinical utility of ClinVar by providing robust disease ontology mappings.
  • The toolkit and protocol support more accurate interpretation of human genetic variations.
  • CMAT is a valuable resource for researchers and clinicians in the field of human genetics.