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Related Concept Videos

Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
Law of Independent Assortment02:03

Law of Independent Assortment

While Mendel’s Law of Segregation states that the two alleles for one gene are separated into different gametes, a different question of how different genes are inherited remains. For example, is the gene for tall plants inherited with the gene for green peas? Mendel asked this question by experimenting with a dihybrid cross; a cross in which both parents are homozygous for two distinct traits resulting in an F1 generation that are heterozygous for both traits.
Law of Independent Assortment02:03

Law of Independent Assortment

While Mendel’s Law of Segregation states that the two alleles for one gene are separated into different gametes, a different question of how different genes are inherited remains. For example, is the gene for tall plants inherited with the gene for green peas? Mendel asked this question by experimenting with a dihybrid cross; a cross in which both parents are homozygous for two distinct traits resulting in an F1 generation that are heterozygous for both traits.

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Related Experiment Video

Updated: May 18, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Basic principles and laboratory analysis of genetic variation.

Jesus Gonzalez-Bosquet1, Stephen J Chanock

  • 1H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA. jesus.gonzalezbosquet@moffitt.org

IARC Scientific Publications
|September 25, 2012
PubMed
Summary
This summary is machine-generated.

Human genetics research now uses genome-wide association studies (GWAS) to identify complex disease risk factors. Further investigation is crucial to understand genetic variability and gene-environment interactions for disease predisposition.

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Last Updated: May 18, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Published on: February 3, 2023

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

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Area of Science:

  • Human Genetics
  • Genomics
  • Complex Disease Research

Background:

  • The human genome project and technological advancements have transformed the study of complex diseases and traits.
  • Human genetics now focuses on the genome's role in multifaceted disease risk, with much still unknown.
  • Genome-wide association studies (GWAS) have become key in identifying genetic predisposition.

Purpose of the Study:

  • To explore the evolving landscape of human genetics in understanding complex diseases.
  • To highlight the importance of genome-wide approaches and large-scale epidemiological studies.
  • To emphasize the need for functional validation of newly discovered genetic regions and gene-environment interactions.

Main Methods:

  • Utilizing genome-wide association studies (GWAS) to discover new candidate regions for disease risk.
  • Employing large-scale, high-quality epidemiological studies for replication of findings.
  • Discussing analytical platforms and tools for investigating genetic contributions to diseases and traits.

Main Results:

  • Genome-wide, "agnostic" approaches are successfully replicating results across different settings.
  • New candidate regions identified by GWAS require extensive follow-up for functional significance.
  • Understanding genetic variability's true effect on complex disease risk is paramount.

Conclusions:

  • High-quality studies are essential for assessing environmental contributions and gene-environment interactions.
  • Continued investigation into genetic variation, population genetics, and analytical tools is vital.
  • The study of the genome is crucial for unraveling the genetic basis of human diseases and traits.