Related Experiment Video

Updated: Dec 27, 2025

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

11.3K

Bad Gene Hunting-Sudden Unexplained Death and Familial Long QT Syndrome

Katharine A Wallis1,2

  • 1Department of General Practice and Primary Health Care, The University of Auckland, New Zealand.

JAMA Cardiology
|February 27, 2020
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.1K

Related Experiment Videos

Last Updated: Dec 27, 2025

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

11.3K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.1K

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.2K
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...
15.2K
Lethal Alleles02:41

Lethal Alleles

17.5K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
17.5K

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

Stopping antidepressants: when and how.

Australian prescriber·2026

Continuing antidepressants or not: Evaluating the potential benefits and harms.

Australian journal of general practice·2026

Toolkit to prompt and support stopping antidepressants in general practice: an interview study exploring patient participants' experiences in the RELEASE trial.

BMJ open·2026

Association between comorbidities and differences in treatment decisions and outcomes in patients with colon or rectal cancer: a systematic review.

BMJ open·2026

Use of mental health treatment plans, psychological treatment services and antidepressants in young Australian women: A cohort study.

The Australian and New Zealand journal of psychiatry·2025

General practice specialty decision making: a system-level Australian qualitative study.

BJGP open·2025

Efficacy and Safety of Semaglutide According to Frailty Status: A Post Hoc Analysis of the SELECT Randomized Clinical Trial.

JAMA cardiology·2026

PET, Proteomics, and Immunophenotyping of Arterial Inflammation and Checkpoint Inhibition.

JAMA cardiology·2026

Designing Cardiovascular Outcomes Trials in Clonal Hematopoiesis of Indeterminate Potential.

JAMA cardiology·2026

Long-Term Outcomes Following Bilateral vs Single Internal Thoracic Artery Grafts: A Secondary Analysis of a Randomized Clinical Trial.

JAMA cardiology·2026

Prognostic Thresholds of Tricuspid Regurgitation in Transthyretin Amyloid Cardiomyopathy.

JAMA cardiology·2026

Causal Endotype-Based Classification of Myocardial Infarction.

JAMA cardiology·2026

Safety and Efficacy of Ceralasertib plus Olaparib for Advanced/Metastatic Triple-Negative Breast Cancer in Three Molecular Strata: The Phase II VIOLETTE Study.

Clinical cancer research : an official journal of the American Association for Cancer Research·2026

IL-21 boosts T cell-therapy efficacy for solid tumors by enhancing mitochondrial Ca2+-mediated motility of effector CD8+ T cells.

Cancer immunology research·2026

Removal of boxed warning for menopausal hormone therapy: What nurses need to know.

Nursing·2026

Fruquintinib: Mechanism of Action, Clinical, and Translational Science.

Clinical and translational science·2026

The RNA-binding protein Psc1 functions downstream of the NDR/LATS kinase Cbk1 to modulate CO2 tolerance in Cryptococcus neoformans.

mBio·2026

In the wisdom of Odin: modular architecture, receptor trafficking and therapeutic implications.

Expert opinion on therapeutic targets·2026
See all related articles
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
Jove
Visualize
Contact Us