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Related Concept Videos

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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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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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Related Experiment Video

Updated: Jul 28, 2025

Identification of Coding and Non-coding RNA Classes Expressed in Swine Whole Blood
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The SWine IMputation (SWIM) haplotype reference panel enables nucleotide resolution genetic mapping in pigs.

Rongrong Ding1,2,3, Rodrigo Savegnago2,4, Jinding Liu2,5

  • 1College of Animal Science and National Engineering Research Center for Breeding Swine Industry, South China Agricultural University, Guangzhou, Guangdong, China.

Communications Biology
|May 30, 2023
PubMed
Summary

Researchers developed a pig haplotype panel from 2259 whole genome-sequenced animals. This resource significantly improves genotype imputation accuracy, enhancing genetic mapping resolution for livestock genetic improvement.

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Area of Science:

  • Animal Genetics
  • Genomics
  • Quantitative Trait Loci (QTL) analysis

Background:

  • Genetic mapping in pigs is crucial for animal genetic improvement but hindered by low-resolution genotyping.
  • Advances in high-throughput genotyping have not fully overcome the challenge of sparse variant data in pigs.

Purpose of the Study:

  • To develop a high-quality reference haplotype panel for pigs to improve genotype imputation accuracy.
  • To enhance the resolution of genetic mapping in pigs for better identification of genes influencing economically important traits.

Main Methods:

  • Constructed a reference haplotype panel using whole genome sequencing data from 2259 pigs across 44 breeds.
  • Optimized genotype imputation by evaluating software and breed composition for the panel.
  • Validated imputation accuracy using concordance rates and r-squared values.

Main Results:

  • Achieved an average genotype concordance rate exceeding 96% with the developed panel.
  • Obtained a non-reference concordance rate of 88% and an imputation accuracy (r²) of 0.85.
  • Demonstrated significant improvement in genetic mapping resolution through case studies using the imputed genotypes.

Conclusions:

  • The developed pig reference haplotype panel substantially enhances genotype imputation accuracy and genetic mapping resolution.
  • This resource, accessible via a public web server, is expected to accelerate genetic improvement in pigs.
  • Facilitates the identification of genes and alleles responsible for economically important traits in swine populations.