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Related Concept Videos

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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Genome-wide Association Studies-GWAS01:11

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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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What is Population Genetics?01:25

What is Population Genetics?

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.While some alleles of a given gene might be observed commonly, other variants...
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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Updated: Jun 5, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Interpreting GC content differences across populations at polymorphic sites.

Sheel Chandra1, Ziyue Gao2

  • 1Department of Biology, University of Pennsylvania, Philadelphia, PA, USA, 19104.

Biorxiv : the Preprint Server for Biology
|June 4, 2026
PubMed
Summary
This summary is machine-generated.

Inter-population differences in GC content at polymorphic sites are influenced by demographic history and mutation bias, not rapid evolution. Adjusting allele frequency thresholds reveals these patterns are sensitive to analysis methods.

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Area of Science:

  • Population Genetics
  • Genomics
  • Evolutionary Biology

Background:

  • Recent studies show inter-population differences in GC content at polymorphic sites.
  • Populations with recent bottlenecks exhibit lower GC content (GC%) at common polymorphic sites.

Purpose of the Study:

  • Investigate evolutionary and technical factors driving GC content patterns across species.
  • Clarify the interpretation of inter-population GC content differences.

Main Methods:

  • Analyzed GC content at polymorphic sites across humans, mice, maize, and silkworm.
  • Examined sensitivity to allele frequency thresholds and mutation types.
  • Utilized forward-in-time simulations with realistic demographic parameters.

Main Results:

  • GC% at polymorphic sites is sensitive to allele frequency thresholds, reducing inter-population differences.
  • GC% variation across allele frequency bins is driven by mutation type abundance.
  • Demographic history, mutation bias (excess strong-to-weak), and GC-biased gene conversion (gBGC) interact to shape patterns.

Conclusions:

  • Base composition at polymorphic sites is shaped by demographic history, mutation bias, and gBGC.
  • Observed inter-population GC content differences, especially at common variants, do not indicate stable genome-wide trends or divergence in base composition.