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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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SNiPgenie: a tool for microbial SNP site detection from whole-genome sequencing data
Damien Farrell1, Viktor Perets1, Stephen V Gordon1,2,3
1UCD School of Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland.
Access Microbiology
|September 29, 2025
Summary
SNiPgenie is a bioinformatics pipeline for whole-genome sequencing (WGS) analysis. This tool efficiently identifies single nucleotide polymorphisms (SNPs) for precise microbial strain delineation and tracking of infection transmission.
Area of Science:
- Microbiology
- Bioinformatics
- Genomics
Background:
- Whole-genome sequencing (WGS) offers high-resolution insights into microbial pathogens, crucial for antibiotic resistance profiling, lineage classification, and outbreak surveillance.
- Accurate strain delineation relies on identifying single nucleotide polymorphisms (SNPs) through genome alignment against a reference.
Purpose of the Study:
- To develop SNiPgenie, a bioinformatics pipeline for simultaneous variant calling across multiple samples.
- To support the tracking of *Mycobacterium bovis* infection transmission in livestock and wildlife.
Main Methods:
- SNiPgenie automates the entire variant calling process for single nucleotide polymorphisms (SNPs).
- The pipeline was developed for analyzing whole-genome sequencing (WGS) data.
- It offers both command-line and graphical user interfaces and runs on standard computers.
Main Results:
- SNiPgenie enables high-precision delineation of microbial strains using SNPs.
- The pipeline facilitates simultaneous variant calling across numerous samples.
- It is applicable to various bacterial species for tracking evolutionary changes.
Conclusions:
- SNiPgenie is an efficient tool for whole-genome sequencing analysis and SNP identification.
- The pipeline supports epidemiological surveillance and understanding of pathogen transmission dynamics.
- It provides a user-friendly and accessible solution for bacterial genomics research.
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