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

15.1K
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...
15.1K
Polygenic Traits01:18

Polygenic Traits

68.5K
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...
68.5K
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches01:23

Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches

311
Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
311
Human Genetics01:28

Human Genetics

1.3K
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...
1.3K
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

852
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
852

You might also read

Related Articles

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

Sort by
Same author

The gene expression landscape of disease genes.

Genome biology·2026
Same author

The polygenic, omnigenic and stratagenic models of complex disease risk.

Nature genetics·2026
Same author

Genomic analyses reveal new insights into Alzheimer's disease.

medRxiv : the preprint server for health sciences·2025
Same author

Polygenicity at the pathway level for anorexia nervosa.

medRxiv : the preprint server for health sciences·2025
Same author

Familial confounding in the associations between maternal health and autism.

Nature medicine·2025
Same author

Sibling similarity can reveal key insights into genetic architecture.

eLife·2025
Same journal

High-throughput measurements of protein domain functions using magnetic separation.

Nature protocols·2026
Same journal

Inducing physiological polarity and performing gene editing using CRISPR-Cas9 in human trophoblast organoids.

Nature protocols·2026
Same journal

Photocatalytic low-temperature defluorination of PTFE.

Nature protocols·2026
Same journal

Multimodal imaging and quantification of lanthanide chelate-labeled micro- and nanoplastics in plants.

Nature protocols·2026
Same journal

Facilitating structure-based drug discovery with an artificial intelligence-driven virtual screening platform.

Nature protocols·2026
Same journal

Yeast nuclei-mediated precise delivery of synthetic megabase-scale human DNA into mammalian embryos.

Nature protocols·2026
See all related articles

Related Experiment Video

Updated: Dec 13, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

4.6K

Tutorial: a guide to performing polygenic risk score analyses.

Shing Wan Choi1,2, Timothy Shin-Heng Mak3, Paul F O'Reilly4,5

  • 1MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

Nature Protocols
|July 26, 2020
PubMed
Summary
This summary is machine-generated.

Polygenic risk scores (PRS) estimate genetic liability for traits and diseases using genome-wide association study (GWAS) data. This guide provides essential best-practice recommendations for performing and interpreting PRS analyses to ensure consistency and accuracy in biomedical research.

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

10.5K
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

13.3K

Related Experiment Videos

Last Updated: Dec 13, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

4.6K
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

10.5K
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

13.3K

Area of Science:

  • Genetics
  • Bioinformatics
  • Biomedical Research

Background:

  • Polygenic scores (PRS) estimate an individual's genetic liability for traits/diseases based on genotype data and GWAS findings.
  • Despite explaining a small variance, PRS are crucial in research for assessing shared etiology, evaluating clinical utility, and in experimental studies.
  • The increasing power of PRS with larger GWAS datasets highlights their future role in research and stratified medicine.

Purpose of the Study:

  • To provide comprehensive guidelines for performing and interpreting polygenic risk score (PRS) analyses.
  • To address the lack of standardized methods, which can lead to inconsistencies and misinterpretations in PRS research.
  • To offer recommendations for best practices and discuss future challenges in PRS methodology.

Main Methods:

  • Outline standard quality control steps for PRS analyses.
  • Discuss various methods for calculating PRS.
  • Provide an introductory online tutorial for PRS analysis.

Main Results:

  • Highlight common misconceptions associated with PRS results.
  • Offer recommendations for best practices in PRS analysis and interpretation.
  • Identify future challenges and areas for development in PRS methodology.

Conclusions:

  • Standardized guidelines are crucial for consistent and accurate PRS analysis in biomedical research.
  • Adherence to best practices will enhance the utility of PRS in research and stratified medicine.
  • Further development is needed to address future challenges in PRS methodology and application.