2kplus2
2kplus2 detects single nucleotide polymorphisms (SNPs) in sequencing data by identifying characteristic cycles in De Bruijn graphs derived from de novo genome assemblies.
Key Features:
- De Bruijn Graph-Based SNP Detection: Identifies SNP candidates by enumerating characteristic 2k + 2 cycles within De Bruijn graphs constructed from sequencing data.
- Comprehensive Variant Discovery: Detects SNPs across complex and high-coverage genomic regions that may be missed by alignment-based approaches.
- Machine Learning Refinement: Uses sequence-derived attributes within a decision tree model to improve SNP classification accuracy.
- Graph Topology Analysis: Utilizes structural properties of de novo assembled graphs to capture topological signatures of genetic variants.
Scientific Applications:
- Genetic Variation Analysis: Enables genome-wide discovery of single nucleotide polymorphisms for studies of genetic diversity.
- Population Genomics: Supports analysis of genomic variation across multiple populations or ecotypes.
- Comparative Genomics: Facilitates detection of SNP differences across genomes for evolutionary and cross-species studies.
Methodology:
The algorithm constructs De Bruijn graphs from sequencing data using de novo assembly, enumerates 2k + 2 cycles to identify SNP candidates, and applies a decision tree model based on sequence-derived attributes to refine variant detection.
Topics
Details
- Tool Type:
- command-line tool
- Operating Systems:
- Linux
- Programming Languages:
- Ruby, C++, Perl
- Added:
- 8/3/2017
- Last Updated:
- 11/25/2024
Operations
Publications
Younsi R, MacLean D. Using 2<i>k</i> + 2 bubble searches to find single nucleotide polymorphisms in <i>k</i>-mer graphs. Bioinformatics. 2014;31(5):642-646. doi:10.1093/bioinformatics/btu706. PMID:25344498. PMCID:PMC4341063.