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.

Documentation

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