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Table 5 Comparative genomics

From: Unraveling genomic variation from next generation sequencing data

Tool

Purpose

Properties

Support

Cinteny [111]

Fast identification of syntenic regions

• Flexible parameterization

• Pre-loaded annotated mammalian, invertebrate and fungal genomes

• User-provided data such as orthologous genes, sequence tags or other markers

ggbio [112]

Views of particular genomic regions and genome-wide overviews

• ideograms

• Bioconductor Library

• grand linear views

• sequence fragment length

• edge-linked interval to data view,

• mismatch pileup,

• several splicing summaries

GenomeComp [113]

A tool for summarizing, parsing and visualizing a genome wide sequence comparison

• A tool to locate the rearrangements, insertions or deletions of genome segments between species or strains

• Fasta format

• Genbank format

• EMBL format

•BLAST output file

Circos [114]

Developed to identify and analyze similarities and differences between larger genomes

• Circular layout

• It supports its own file format

• Scatter, line, and histogram plots, heat maps, tiles, connectors, and text

DHPC [115]

Visualization of large-scale genome sequences by mapping sequences into a two-dimensional using the space-filling function of Hilbert-Peano mapping.

• Repeating sequences

• DNA sequences can be loaded in plain text or FASTA forma

• Degree of base bias

• Regions of homogeneity and their boundaries,

• Mark of annotated segments such as genes or isochores.

HilbertVis [116]

Functions to visualize long vectors of integer data by means of Hilbert curves

• Chip-Seq data

• The stand-alone version can load GFF, BED/Wiggle and Maq map files.

• Chip-chip data

• Exploration at different zoom levels of detail

• The R packages HilbertVis and HilbertVisGUI are integrated in the R / Bioconductor statistical environment and can display any data vector prepared with R.

In-GAVsv [117]

Detection and visualization of structural variation from paired-end mapping data and detection of larger insertions and complex variants with lower false discovery rate

• Identification of different types of SVs, including large indels, inversions, translocations, tandem duplications and segmental duplications.

• A FASTA formatted reference sequence and a SAM alignment are required

• A PTT formatted annotation file for the reference sequence is optional.

• Distinction between homozygous and heterozygous variants

Meander [118]

It is mainly developed to visually discover and explore structural variations in a genome based on Read-Depth and Pair-end information

• Linear view

• It supports its own file format both for RD and paired-end data

• Hilbert curve –based view

• Comparison between up to four samples against a reference simultaneously

• Visualization ofvarious types of structural inter/intra chromosomal variations

• Exploration of data at different resolution levels

MEDEA [119]

Genomic feature densities and genome alignments of circular genomes

• Customization of since tracks can by dragging and dropping into a desired position

• It supports its own file format

• User-defined color schemes

• Zooming into specific regions and smooth navigation

MizBee [120]

Synteny browser for exploring conservation relationships in comparative genomics data

• Side-by-side linked views and data visualization at different scales, from the genome to the gene

• Edge hustling and layering to increase visual signals about conservation relationships related to closeness, size, relationship, and orientation.

Seevolution [121]

Interactive 3D environment that enables visualization of diverse genome evolution processes

• Interactive animation of mutation histories involving genome rearrangement, point mutation, recombination, insertion and deletion.

• Accepts complete phylogenetic trees and allows path tracing between any two points.

•Simultaneous visualization of multiple organisms related by a phylogeny.

•3D models of circular and linear chromosomes

Sybil [122]

Comparative genome data, with a particular importance on protein and gene clustered data

• Graphical demonstration of local alignment of the genomes in which the clustered genes are located

• Genomes are organized in a vertical heap, as in multiple alignments and shaded areas links are used to connect genes that belong to the same cluster

VISTA [123]

Global DNA sequence alignments of arbitrary length

• Global and alignment visualization up to several megabases under the same scale

• Dynamic and interactive dot-plots