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

Genetic Variation01:25

Genetic Variation

387
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
387
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

6.1K
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
6.1K
Genomics02:02

Genomics

37.4K
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...
37.4K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.9K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.9K
Synthetic Biology02:55

Synthetic Biology

4.9K
Synthetic biology is an interdisciplinary science that involves using principles from disciplines such as engineering, molecular biology, cell biology, and systems biology. It involves remodeling existing organisms from nature or constructing completely new synthetic organisms for applications such as protein or enzyme production, bioremediation, value-added macromolecule production, and the addition of desirable traits to crops, to name a few.
Golden rice
Golden rice is a genetically modified...
4.9K
Mutations in Microorganisms01:18

Mutations in Microorganisms

74
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
74

You might also read

Related Articles

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

Sort by
Same author

Harmonizing standards and resources for the medical genome.

Nature·2026
Same author

Cascade Testing Barriers: How to Overcome?

International journal of cancer·2026
Same author

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks.

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

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics.

Clinical genetics·2026
Same author

Understanding shared and sex-specific considerations in hereditary breast and ovarian cancer (HBOC) testing decision-making in Singapore.

Journal of genetic counseling·2026
Same author

Genomic landscape of drug binding and pharmacogenetic variation across diverse populations using SNPdrug3D.

Nature communications·2026
Same journal

Predicting Chemotherapy Response from Staging Laparoscopy Images.

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

Development and External Validation of a Machine Learning Model for 10-Year Ischemic Stroke Risk Prediction in Diverse Populations.

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

MCH-Guard: Multimodal Machine Learning Framework for Risk Stratification of Cerebral Microhemorrhage Risk in the Alzheimer's Disease Neuroimaging Initiative.

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

Genetic and maternal environmental contributions to estimated fetal weight at 20 weeks gestation compared with birthweight.

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

Better immediate declarative memory is associated with forgetting during locomotor adaptation in chronic stroke and in older adults.

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

An empirical Bayes framework for burden and dispersion association tests helps prioritize rare variants associated with Alzheimer's disease.

medRxiv : the preprint server for health sciences·2026
See all related articles

Related Experiment Video

Updated: Sep 9, 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

34.0K

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.

D I Ritter1, M Mandell2, C Preston2

  • 1Baylor College of Medicine.

Medrxiv : the Preprint Server for Health Sciences
|September 5, 2025
PubMed
Summary
This summary is machine-generated.

International workshops effectively promoted the use of the Clinical Genome Resource (ClinGen) Variant Curation Interface (VCI) for genomic medicine. Training local scientists fostered sustained engagement with ClinGen

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

9.9K
Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

10.7K

Related Experiment Videos

Last Updated: Sep 9, 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

34.0K
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

9.9K
Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

10.7K

Area of Science:

  • Genomic Medicine
  • Clinical Genomics
  • Bioinformatics Tools

Background:

  • The Clinical Genome Resource (ClinGen) aims to centralize clinically relevant genetic knowledge.
  • Broad adoption of ClinGen tools is crucial for advancing genomic medicine.
  • Engaging international genetics communities is key for resource dissemination.

Purpose of the Study:

  • To assess the sustained use of ClinGen tools, specifically the Variant Curation Interface (VCI).
  • To evaluate the effectiveness of international training workshops in promoting ClinGen tool adoption.
  • To analyze the organizational aspects and costs associated with deploying ClinGen VCI instances.

Main Methods:

  • Conducted training workshops using the ClinGen Variant Curation Interface (VCI) with international genetics groups.
  • Administered pre and post-workshop questionnaires to assess participant knowledge and intended tool use.
  • Analyzed ClinGen tool usage data and evaluated the costs of creating dedicated VCI instances.

Main Results:

  • Over 200 participants attended the workshops, with significant engagement from local scientists.
  • Approximately 79% of participants expressed likelihood to use the VCI post-workshop, despite initial unfamiliarity with variant classification.
  • Around 10% of participants created permanent VCI accounts, with estimated costs of $3 per VCI instance.

Conclusions:

  • International workshops are effective in driving sustained use of ClinGen's variant curation tools.
  • Engaging local scientists is vital for successful workshop deployment and tool adoption.
  • Future efforts should consider tiered user groups and continued local engagement for optimal impact.