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Related Concept Videos

Genetic Variation01:25

Genetic Variation

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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.
Genes exist in different versions called alleles,...
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Mutation, Gene Flow, and Genetic Drift01:09

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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).
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Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.
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Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
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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%...
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What is Population Genetics?01:25

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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.
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An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
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Exploring Genomic Variability in the Mediterranean Buffalo Breed: A Step Towards Custom SNP Array.

Chiara Arcuri1, Federica Gabbianelli1, Francesca Bencivenga1

  • 1Department for Innovation in Biological, Agro-Food and Forest Systems-DIBAF, University of Tuscia, 01100 Viterbo, Italy.

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|March 28, 2026
PubMed
Summary
This summary is machine-generated.

Researchers developed over 11 million high-confidence single-nucleotide polymorphisms (SNPs) for Mediterranean buffalo. This genomic resource aids sustainable breeding and genetic diversity conservation in buffalo populations.

Keywords:
Mediterranean buffaloONTSNP chipWGSbiallelic SNP datasetlong-readsriver buffaloswamp buffalo

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Area of Science:

  • Animal Genomics
  • Quantitative Genetics
  • Conservation Genetics

Background:

  • Mediterranean buffalo breeding lacks breed-specific genomic resources, hindering genomic improvement.
  • Existing resources are often bovine-derived, limiting their effectiveness in buffalo populations.

Purpose of the Study:

  • To identify a comprehensive set of high-confidence single-nucleotide polymorphisms (SNPs) in Mediterranean buffalo.
  • To assess the informativeness of these SNPs across diverse buffalo populations (river and swamp types).

Main Methods:

  • Integrated short- and long-read sequencing from 58 whole-genome samples.
  • Employed bioinformatic tools to identify unique and shared variants, ensuring dataset reliability.
  • Evaluated SNP polymorphism and missingness in additional river and swamp buffalo populations.

Main Results:

  • Identified over 11 million high-confidence biallelic SNPs specific to the Mediterranean buffalo breed.
  • Demonstrated the utility of these SNPs across different buffalo populations, providing a robust genomic resource.
  • Overcame limitations of current bovine-derived genotyping tools for Mediterranean buffalo.

Conclusions:

  • The identified SNPs provide a foundational resource for developing a breed-specific SNP array for Mediterranean buffalo.
  • This resource will enable cost-effective SNP chip development, supporting precise genomic selection and breeding.
  • Facilitates conservation of genetic diversity and enhances sustainable breeding programs in Mediterranean buffalo.