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

What is Population Genetics?01:25

What is Population Genetics?

57.8K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
57.8K
Mechanistic Models: Compartment Models in Individual and Population Analysis01:23

Mechanistic Models: Compartment Models in Individual and Population Analysis

33
Mechanistic models are utilized in individual analysis using single-source data, but imperfections arise due to data collection errors, preventing perfect prediction of observed data. The mathematical equation involves known values (Xi), observed concentrations (Ci), measurement errors (εi), model parameters (ϕj), and the related function (ƒi) for i number of values. Different least-squares metrics quantify differences between predicted and observed values. The ordinary least...
33
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.2K
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...
13.2K
Incomplete Dominance01:43

Incomplete Dominance

22.2K
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.
22.2K
Pedigree Analysis01:35

Pedigree Analysis

84.1K
Overview
84.1K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

5.7K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.7K

You might also read

Related Articles

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

Sort by
Same author

Genetic drivers of etiologic heterogeneity in thyroid cancer.

Nature communications·2026
Same author

A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.

Nature genetics·2026
Same author

Cross-population metabolome-wide Mendelian randomization study of prostate cancer risk.

Research square·2026
Same author

Multiracial individuals' perspectives on participating in genetics research.

Journal of community genetics·2026
Same author

Systematic common and rare variant association testing in 392,030 whole genomes in <i>All of Us</i>.

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

Cross-ancestry proteome-wide Mendelian randomization prioritizes 12 plasma protein candidates for breast cancer risk.

medRxiv : the preprint server for health sciences·2026

Related Experiment Video

Updated: Jun 16, 2025

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.1K

A data model for population descriptors in genomic research.

Alyna T Khan1, Clement Adebamowo2, Stephanie M Fullerton3

  • 1School of Engineering, Design, and Innovation, Pennsylvania State University, University Park, PA, USA.

American Journal of Human Genetics
|June 13, 2025
PubMed
Summary

Genetic studies need better population data organization. The PRIMED Consortium developed a data model to systematically manage detailed population descriptors, improving research and clinical translation.

Keywords:
data modelgeneticsgenomicspopulation descriptors

More Related Videos

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
14:56

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies

Published on: May 6, 2022

4.5K
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 16, 2025

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.1K
Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
14:56

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies

Published on: May 6, 2022

4.5K
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:

  • Genomics
  • Bioinformatics
  • Population Genetics

Background:

  • Global definitions for population descriptors like race and ethnicity are lacking, leading to ad hoc usage in genetic studies.
  • Current genomic research infrastructures struggle to systematically organize and harmonize detailed population descriptor data, causing information loss and hindering collaboration.
  • Recommendations emphasize retaining granularity in population descriptors, but practical implementation remains a challenge.

Purpose of the Study:

  • To present a novel data model developed by the Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium.
  • To enable systematic organization and retention of detailed population descriptor data for genomic research.
  • To facilitate a versatile, traceable, and reproducible harmonization system for population data.

Main Methods:

  • Development of a flexible data model by the PRIMED Consortium.
  • Implementation of a system for organizing and retaining multifaceted population descriptor data.
  • Creation of a framework supporting scientific justification for descriptor choices.

Main Results:

  • The data model provides a structured approach to managing detailed population descriptors.
  • It supports flexible and scientifically justifiable selection of descriptors by researchers.
  • The system avoids conflating social identities with biological categories and prevents harmful inferences.

Conclusions:

  • The PRIMED data model enhances the organization and usability of population descriptor data in genomic research.
  • This approach promotes scientifically robust findings and minimizes harms associated with descriptor misuse.
  • The model is crucial for improving international collaboration and clinical translation of genomic research findings.