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

Pleiotropy01:33

Pleiotropy

37.5K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
37.5K
Polygenic Traits01:18

Polygenic Traits

64.2K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
64.2K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.0K
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...
12.0K
Human Genetics01:28

Human Genetics

469
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
469
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

13.5K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
13.5K
Incomplete Dominance01:43

Incomplete Dominance

20.2K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
20.2K

You might also read

Related Articles

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

Sort by
Same author

Use of a polygenic risk score to enhance early detection of coronary atherosclerosis.

American journal of preventive cardiology·2026
Same author

Genetic and clinical risk factors for recurrent events among patients with coronary artery disease.

American journal of preventive cardiology·2026
Same author

Body mass index threshold for obesity should be personalized based on polygenic score: Analysis of european and east asian biobanks.

American journal of preventive cardiology·2026
Same author

Performance of Cardiovascular Polygenic Risk Scores in Carotid Stenosis Identification.

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

A Machine Learning Driven Approach to Quantifying Coronary Artery Tortuosity.

JACC. Advances·2026
Same author

Evaluating Individual Level Performance of Polygenic Risk Scores Using Early Onset High Genetic Risk Coronary Artery Disease as a Benchmark.

medRxiv : the preprint server for health sciences·2026

Related Experiment Video

Updated: May 7, 2025

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

9.6K

Polygenic Risk Scores in Human Disease.

Dimitri J Maamari1,2,3,4, Roukoz Abou-Karam2,5, Akl C Fahed1,2,3,5

  • 1Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, United States.

Clinical Chemistry
|January 3, 2025
PubMed
Summary

Polygenic risk scores (PRS) offer valuable insights into genetic susceptibility for complex diseases. These scores can enhance disease prediction, diagnosis, and treatment, transforming precision medicine and public health strategies.

More Related Videos

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

10.1K
Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.3K

Related Experiment Videos

Last Updated: May 7, 2025

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

9.6K
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

10.1K
Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.3K

Area of Science:

  • Genomics
  • Precision Medicine
  • Biostatistics

Background:

  • Polygenic risk scores (PRS) quantify genetic susceptibility to human health traits.
  • Large datasets linking genetic and phenotypic information are driving PRS development.
  • PRS are crucial for understanding complex diseases and advancing precision medicine.

Purpose of the Study:

  • To detail the development of PRS.
  • To outline five key applications of PRS in improving human health: augmenting risk prediction, refining diagnosis, guiding treatment, enhancing clinical trials, and improving public health.
  • To identify challenges in the clinical implementation of PRS.

Main Methods:

  • Development of PRS based on genetic and phenotypic data.
  • Application of PRS in risk prediction models.
  • Evaluation of PRS utility across various clinical scenarios.

Main Results:

  • PRS provide valuable insights into disease risk and genetic architecture.
  • Potential applications span risk prediction, diagnosis, treatment guidance, clinical trials, and public health.
  • Challenges remain for widespread clinical adoption.

Conclusions:

  • PRS can identify disease risk early and inform treatment decisions, improving patient outcomes and public health.
  • Future genomic risk assessments will integrate PRS with other genetic and non-genetic factors.
  • Clinical implementation requires addressing challenges in cross-ancestry performance, standardization, and system integration.