Related Experiment Video
Updated: Oct 9, 2025
07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
11.1K
Genetic Variation and the Distribution of Variant Types in the Horse
S A Durward-Akhurst1, R J Schaefer1, B Grantham2
1Department of Veterinary Population Medicine, University of Minnesota, Minneapolis, MN, United States.
Frontiers in Genetics
|December 20, 2021
Summary
This study presents the largest catalog of horse genetic variation using whole genome sequencing (WGS). It details variant distribution across breeds, identifies unique and potentially lethal variants, and aids in understanding equine health and performance traits.
Area of Science:
- Genomics
- Animal Genetics
- Comparative Genomics
Background:
- Genetic variation significantly influences health and disease susceptibility.
- Understanding genotype-phenotype correlations is crucial in medical genetics.
- Whole genome sequencing (WGS) is a powerful tool for variant discovery.
Purpose of the Study:
- To create the largest catalog of genetic variation in horses.
- To analyze variant distribution, allele frequencies, and breed-specific variants.
- To identify potential embryonic lethal variants and regions with unusual variation patterns.
Main Methods:
- Whole genome sequencing (WGS) of 534 horses.
- Comparison of two common variant callers.
- Analysis of genetic variation across ten distinct horse breeds.
Main Results:
- The largest catalog of horse genetic variation was generated.
- Distribution of variants, allele frequencies, and breed-unique variants were detailed.
- Potential embryonic lethal variants and problematic genomic regions were identified.
Conclusions:
- The equine genetic variation catalog facilitates variant prioritization for diseases and traits.
- It provides insights into genomic regions needing improved assembly or annotation.
- This resource advances understanding of equine genetics and its relevance to human traits.
Related Concept Videos
01:25Genetic Variation
847
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,...
Genes exist in different versions called alleles,...
847
01:09Mutation, Gene Flow, and Genetic Drift
60.0K
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).
60.0K
01:43Incomplete Dominance
26.3K
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.
26.3K
02:26Comparing Copy Number Variations and SNPs
18.1K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.1K
01:25What is Population Genetics?
60.2K
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.
60.2K
01:49Hardy-Weinberg Principle
74.0K
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.
74.0K