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

Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant Drugs: Low-Molecular-Weight Heparins

675
Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
675
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
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%...
17.7K
Disorders of Hemostasis01:24

Disorders of Hemostasis

831
Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
831
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.3K
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...
13.3K
Venous Return01:04

Venous Return

3.9K
The circulatory system plays a crucial role in ensuring the optimal functioning of the human body. One of its critical components is venous return - the process that completes the blood circulation cycle. This article will delve into the concept of venous return, how it works, and its significance to our health.
What is Venous Return?
Venous return refers to the rate at which blood flows back to the heart from the body's peripheral veins. It's an integral part of the circulatory system...
3.9K
Genetic Variation01:25

Genetic Variation

273
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,...
273

You might also read

Related Articles

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

Sort by
Same author

Comparative microfluidic and enzymatic analyses reveal multifaceted snake venom resistance and novel VWF behavior in the opossum Monodelphis domestica.

PloS one·2025
Same author

Not dead yet: GWAS insights into a common bleeding disorder.

Blood·2025
Same author

Genome-wide association and linkage analysis of histidine-rich glycoprotein identifies common variants associated with plasma histidine-rich glycoprotein concentrations.

Research and practice in thrombosis and haemostasis·2025
Same author

Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish.

Blood advances·2025
Same author

Identification of multiple novel procoagulant plasma ligands for stabilin-2.

Journal of thrombosis and haemostasis : JTH·2025
Same author

Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.

Neurology. Genetics·2025

Related Experiment Video

Updated: Jun 23, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.0K

Venous thromboembolic disease genetics: from variants to function.

Mary Underwood1, Christopher Bidlack2, Karl C Desch3

  • 1Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.

Journal of Thrombosis and Haemostasis : JTH
|June 22, 2024
PubMed
Summary

Recent studies reveal new genetic risk factors for venous thromboembolic disease (VTE), a serious vascular condition. Understanding these heritable factors improves VTE risk prediction and identifies new therapeutic targets.

Keywords:
CRISPRanticoagulantsgenome-wide association studysecretory pathwayvenous thrombosis

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K
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: Jun 23, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.0K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K
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:

  • Genetics and Vascular Biology
  • Thrombosis Research

Background:

  • Venous thromboembolic disease (VTE), encompassing deep vein thrombosis and pulmonary embolism, is a significant cause of morbidity and mortality.
  • Heritable factors play a crucial role in an individual's susceptibility to VTE.
  • Current understanding of genetic contributions to VTE is continually evolving.

Purpose of the Study:

  • To review recent advancements in identifying genetic risk variants for VTE.
  • To emphasize the importance of functional characterization of these genetic variants.
  • To explore how genetic insights can improve VTE risk prediction and understanding of its biological mechanisms.

Main Methods:

  • Review of recent genome-wide association studies (GWAS) and genetic discovery efforts.
  • Analysis of functional studies characterizing the impact of identified genetic variants.
  • Integration of findings to understand gene function beyond the traditional coagulation system.

Main Results:

  • Discovery of novel genetic variants associated with VTE risk.
  • Demonstration of the functional significance of these variants in thrombus formation.
  • Identification of genes involved in VTE pathogenesis both within and outside the canonical coagulation cascade.

Conclusions:

  • Genetic variations significantly influence VTE risk.
  • Functional characterization of genetic variants is essential for understanding VTE pathophysiology.
  • Advancements in human genome sequencing and functional genetic screens will accelerate VTE research and improve risk prediction.