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Detecting sequence variants in clinically important protozoan parasites.

Larissa Calarco1, Joel Barratt1, John Ellis1

  • 1School of Life Sciences, University of Technology Sydney, PO Box 123, Broadway, NSW 2007, Australia.

International Journal for Parasitology
|December 21, 2019
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Summary

Variant detection using next-generation sequencing is vital for studying protozoan pathogens. This review highlights challenges in standardizing analysis for single nucleotide polymorphisms and indels, ensuring reproducible results for population genetics.

Keywords:
Evolutionary selectionNGS dataNon-model organismPopulation geneticsSNPsStructural variantsVariant analysis

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Area of Science:

  • Genomics
  • Population Genetics
  • Bioinformatics

Background:

  • Second and third generation sequencing are key for population genetic studies.
  • Variant detection, including single nucleotide polymorphisms (SNPs) and insertions/deletions (indels), is crucial for understanding pathogen biology.

Purpose of the Study:

  • To review the value of variant detection in non-model organisms, specifically clinically important protozoan pathogens.
  • To discuss limitations and standardization challenges in current variant analysis methods.

Main Methods:

  • Review of existing literature on variant detection tools and pipelines.
  • Analysis of challenges in applying these methods to non-model organisms.

Main Results:

  • Variant detection provides insights into pathogenicity, selective pressures, and phylogenetic relationships.
  • Lack of standardization in variant analysis tools leads to confounding results and requires careful parameter optimization.

Conclusions:

  • Variant detection is fundamental for studying protozoan pathogens, but requires high-quality data and careful consideration of method limitations.
  • Ensuring reproducibility and validity of biological conclusions necessitates attention to special considerations in variant analysis for non-model organisms.