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awesome-pangenomes

A list of software capable of analyzing eukaryotic genomes for pangenomics

Toolkits

  • vg Full featured construction, mapping and SNP calling toolkit based on multiple formats.
  • odgi Fast toolkit based on odgi format
  • gfatools Toolkit for GFA parsing and conversion
  • gfakluge Toolkit and c++ API for GFA manipulation
  • gaftools Toolkit for GAF (Graph Alignment Format) sorting and manipulation.
  • gretl Statistics and analysis for GFA files, written in Rust

Pangenome construction

  • Minigraph Fast method originally intended for 50+ bp SVs by Heng Li, produces rGFA format (not GFA or odgi)
  • Cactus/minigraph Pangenome builder which aims to enable downstream compatibility. Produces GFA and odgi.
  • PGGB Pangenome Graph Builder, calculates SNPs as part of the pipeline. Produces GFA and odgi.
  • Pantools v3+ Fully featured construction of pangenome graphs
  • PSVCP
  • PHG Practical Haplotype Graph
  • PATO R package for pangenome construction
  • Chrom_mini_graph Generate and map reads onto a coloured minimizer pangenome graph
  • GET_PANGENES Perl scripts used by the Ensembl Plants team for pangenomics
  • impg Create an implicit pangenome graph for a homologous target region, then use output bed files to extract sequences for PGGB etc.

Short read alignment to a pangenome graph

  • vg map Original vg mapper (superseded by vg giraffe)
  • vg giraffe Faster and more modern alternative to vg map
  • Hisat2
  • Minigraph Construct graphs or align short or long reads to graphs
  • Chrom_mini_graph Generate and map reads onto a coloured minimizer pangenome graph

Long read alignment to a pangenome graph

SNP callers and genotypers

  • vg call SNP caller for pangenomes, with gam or GAF output
  • Paragraph
  • Pangenie
  • vg call surject to linear reference, then use linear SNP caller like Freebayes, Deepvariant etc
  • Deepvariant Case study of deep variant SNP calling on vg giraffe aligned bam files

Structural Variation (SV) callers and genotypers

  • vg call Call and genotype structural variants on a graph using long and short reads.
  • GraphTyper A graph SV genotyper (does not call SVs)
  • Pangenie kmer-based SV genotyping using short reads. Intended for human only (in 2023).
  • SVarp Use long reads to detect structural variants in a GFA format pangenome.

Bubble (SV) detection

  • bubblegun A tool for detecting Bubbles and Superbubbles

Pangenome viewers -interactive

  • Panagram
  • Bandage Visualize GFA files
  • SeqTubemap Elegant path visualization for smaller regions of a pangenome from the vg team
  • VAG Visualization of short sequence alignments in a pangenome
  • Panache View linearized pangenomes
  • Waragraph
  • PanGraphViewer
  • Wally View GFA (Work in progress 2023)
  • VRPG View rGFA or GFA, written in python and html
  • Pantograph is a commercial option
  • PGV A web based viewer similar to SeqTubeMap
  • Pancat Scripts to filter and visualize GFA files
  • gfaestus GFA visualizer, GPU-accelerated using Vulkan
  • gfaviz Graphical interactive tool for the visualization of sequence graphs in GFA format

Pangenome viewers -static

  • vg - generates static images
  • odgi - generates static images

Pangenome pipelines

  • pangenome. A comprehensive nf-core Nextflow pipeline using PGGB and odgi components. Better parallelized than PGGB alone.
  • pangepop A snakemake pipeline to create a pangenome with minigraph-cactus and align reads against it with vg giraffe

Graph validation tools

File formats

Miscellaneous tools

  • gfainject Map short alignments in BAM format to a GFA (seems it is not a real aligner but a conversion tool). Output in GAF format.
  • GRAFIMO GRAph-based Finding of Individual Motif Occurrences using vg

kmer based approaches

Libraries to explore pangenomes

  • gfapy implements GFA1 and GFA2 parsing and scalable exploration of graphs in Python
  • gfagraphs implements rGFA and GFA1 parsing and editing of graphs in Python
  • graphanalyzer a python package to read and analyze the PAF and the GFA files for the graphs.

Other lists of pangenome tools

Contributions

Is something missing? Contributions are welcome, please make PRs to main or write an issue with a link.

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A list of software for pangenomics

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