VariantDetective: an accurate all-in-one pipeline for detecting consensus bacterial SNPs and SVs.
basic_science · Level V
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- Record sourced from PubMed, PMID 38366603.
- Also identified by DOI 10.1093/bioinformatics/btae066 and PMC identifier 10898327.
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Abstract
Genomic variations comprise a spectrum of alterations, ranging from single nucleotide polymorphisms (SNPs) to large-scale structural variants (SVs), which play crucial roles in bacterial evolution and species diversification. Accurately identifying SNPs and SVs is beneficial for subsequent evolutionary and epidemiological studies. This study presents VariantDetective (VD), a novel, user-friendly, and all-in-one pipeline combining SNP and SV calling to generate consensus genomic variants using multiple tools. The VD pipeline accepts various file types as input to initiate SNP and/or SV calling, and benchmarking results demonstrate VD's robustness and high accuracy across multiple tested datasets when compared to existing variant calling approaches. The source code, test data, and relevant information for VD are freely accessible at https://github.com/OLF-Bioinformatics/VariantDetective under the MIT License.
Medical subject headings
- Polymorphism, Single Nucleotide
- High-Throughput Nucleotide Sequencing