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-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

17.1K
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...
17.1K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

98
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
98
Genomics02:02

Genomics

42.0K
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...
42.0K
Genetic Screens02:46

Genetic Screens

5.9K
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...
5.9K
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

202
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
202
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

119
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
119

You might also read

Related Articles

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

Sort by
Same author

A pilot study in the swine model of lethal cyanide intoxication indicates efficacy of a platinum-methionine complex countermeasure.

Scientific reports·2026
Same author

Flow-mediated endothelial remodeling and inflammation drive developmental vascular susceptibility in ldlr loss of function.

Nature communications·2026
Same author

Optimizing single-lead ECG axis for AI-based detection of myocardial diseases.

NPJ cardiovascular health·2026
Same author

Mitochondrial dysfunction underlies cardiac contractility and growth defects in a zebrafish model of <i>NAA15</i>-related heart disease.

bioRxiv : the preprint server for biology·2026
Same author

Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.

Cell·2026
Same author

Beyond Glycogen Storage: AMPKγ2 Regulates Cardiac Hypertrophy and Electrophysiology via Myosin Interaction.

bioRxiv : the preprint server for biology·2026
Same journal

UK Biobank whole-genome sequencing reveals robust contributions of rare variants to complex-trait heritability.

Genome biology·2026
Same journal

A one-week automated genome-wide optical pooled screen using OttoSeq.

Genome biology·2026
Same journal

Integrated lipidomic and transcriptomic profiling of the host response in human malaria.

Genome biology·2026
Same journal

Centromeric satellite expansion drives genome evolution in the snowy owl.

Genome biology·2026
Same journal

Mapping the landscape of allele-specific expression in porcine genomes.

Genome biology·2026
Same journal

Genomic sequence evolution underlying human neocortical interareal diversification.

Genome biology·2026
See all related articles

Related Experiment Video

Updated: Apr 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.9K

Prioritizing causal disease genes using unbiased genomic features.

Rahul C Deo, Gabriel Musso, Murat Tasan

    Genome Biology
    |January 31, 2015
    PubMed
    Summary
    This summary is machine-generated.

    A new machine learning tool, OPEN, helps pinpoint genes causing cardiovascular disease (CVD). It identified FLNC as a gene linked to dilated cardiomyopathy, validating findings in zebrafish and a patient.

    More Related Videos

    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

    35.1K
    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

    13.7K

    Related Experiment Videos

    Last Updated: Apr 18, 2026

    Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
    05:53

    Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

    Published on: June 21, 2018

    10.9K
    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

    35.1K
    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

    13.7K

    Area of Science:

    • Genomics
    • Cardiovascular Research
    • Machine Learning

    Background:

    • Cardiovascular disease (CVD) is a major global health concern.
    • Genetic studies aim to identify disease-causing genes for new therapies.
    • Challenges remain in linking genetic loci to specific disease mechanisms.

    Purpose of the Study:

    • To develop a machine learning approach for prioritizing gene-disease associations.
    • To overcome limitations in identifying causal genes from genetic studies.
    • To enhance the interpretation of large-scale genetic data.

    Main Methods:

    • Developed Objective Prioritization for Enhanced Novelty (OPEN), a machine learning algorithm.
    • Utilized diverse, unbiased genomic features for quantitative gene prioritization.
    • Employed a zebrafish model for experimental gene validation.

    Main Results:

    • Successfully identified genetic determinants for CVD-related traits like cholesterol and blood pressure.
    • Prioritized FLNC gene association with increased left ventricular diameter, a feature of dilated cardiomyopathy (DCM).
    • Validated FLNC's role in DCM and identified a novel mutation in a patient.

    Conclusions:

    • The OPEN approach aids in interpreting genetic studies without bias.
    • Facilitates the discovery of novel gene-disease relationships.
    • Supports the identification of therapeutic targets for cardiovascular disorders.