Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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...

Evolutionary Relationships through Genome Comparisons

Evolutionary Relationships through Genome Comparisons

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...

Synteny and Evolution

Synteny and Evolution

John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral chromosome underwent...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

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,...

You might also read

Related Articles

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

Sort by

Same author

Whole-genome sequences provide insights into the formation and adaptation of human populations in the Himalayas.

Current biology : CB·2025

Same author

The genome sequence of the Mazarine Blue, <i>Cyaniris semiargus</i> (Rottemburg, 1775).

Wellcome open research·2024

Same author

Assembly of 43 human Y chromosomes reveals extensive complexity and variation.

Nature·2023

Same author

Ghost admixture in eastern gorillas.

Nature ecology & evolution·2023

Same author

HERC1 deficiency causes osteopenia through transcriptional program dysregulation during bone remodeling.

Cell death & disease·2023

Same author

Sequence analyses of Malaysian Indigenous communities reveal historical admixture between Hoabinhian hunter-gatherers and Neolithic farmers.

Scientific reports·2022

Search research articles

Related Experiment Video

Updated: Jun 25, 2026

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

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

Published on: July 27, 2021

Geographical affinities of the HapMap samples.

Miao He¹, Jane Gitschier, Tatiana Zerjal

¹The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom.

|March 5, 2009

Summary

This summary is machine-generated.

The HapMap project

More Related Videos

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes

Published on: July 17, 2021

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Published on: May 6, 2010

Related Experiment Videos

Last Updated: Jun 25, 2026

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

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

Published on: July 27, 2021

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes

Published on: July 17, 2021

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Published on: May 6, 2010

Area of Science:

Population Genetics
Human Evolution
Medical Genetics

Background:

The International HapMap Project collected samples for medical genetics, but these are also used for population genetics and evolutionary studies.
HapMap sample ascertainment differs from standard population studies, potentially affecting results.
Investigating the impact of non-standard ascertainment on HapMap data interpretation is crucial.

Purpose of the Study:

To evaluate the representativeness of HapMap samples in population genetics.
To compare HapMap samples with conventionally ascertained populations.
To assess the suitability of HapMap samples for standard population genetic analyses.

Main Methods:

Comparison of HapMap samples with the HGDP-CEPH panel using genome-wide autosomal SNP data.
Analysis of Y-STR haplotypes, including generation of new data.
Statistical analysis to distinguish populations based on genetic markers.

Main Results:

HapMap samples (YRI, JPT, CHB, CEU) were generally representative of their broad ancestral regions.
Yoruba (YRI) and Japanese (JPT) samples were indistinguishable from independent populations.
Han Chinese (CHB) and Northern/Western European (CEU) samples showed signs of admixture and were distinguishable from other populations.

Conclusions:

YRI and JPT samples are suitable for standard population genetics.
CHB and CEU samples exhibit subtle admixture, requiring cautious interpretation, especially when combined.
CEU samples are better characterized as Western European rather than Northern European.