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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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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...
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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.
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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.
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Overview
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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.
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Related Experiment Video

Updated: Jan 10, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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PSVRP: a pig structural variant reference panel for complex trait genomics and precision breeding.

Xiang Li1, Yu Quan1, Dong Li1,2

  • 1College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, 712100, China.

BMC Genomics
|November 26, 2025
PubMed
Summary
This summary is machine-generated.

Researchers created a comprehensive pig structural variant reference panel (PSVRP) using diverse whole-genome data. This resource identifies numerous structural variants (SVs), revealing pig population divergence and genes linked to adaptation and economic traits for improved breeding.

Keywords:
Complex traitsPig genomicsStructural variants

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Area of Science:

  • Genomics
  • Animal Genetics
  • Population Genetics

Background:

  • Pigs are vital global protein sources and research models.
  • Advancements in sequencing technologies have accelerated pig genetic studies.
  • Structural variants (SVs) in pigs are underexplored due to technical challenges.

Purpose of the Study:

  • To construct a high-resolution, population-scale reference panel for pig structural variants (SVs).
  • To deepen the understanding of genetic variation in pigs.
  • To facilitate the discovery of functional variants for pig breeding.

Main Methods:

  • Integrated 21 long-read and 1,193 short-read whole-genome resequencing datasets.
  • Constructed the Pig Structural Variant Reference Panel (PSVRP).
  • Performed phylogenetic and ADMIXTURE analyses, and selection scans.

Main Results:

  • Identified 319,058 high-confidence SVs, including insertions and deletions.
  • Revealed clear genetic divergence between Asian and European pig populations.
  • Highlighted candidate genes (e.g., EPAS1, NOVA1, PLAG1, MIB1) associated with adaptation and traits.

Conclusions:

  • The PSVRP is a valuable resource for high-resolution, population-scale pig SV genotyping.
  • Enhances understanding of pig genetic variation and functional variants.
  • Provides insights for precision pig breeding and trait discovery.