Structural variant identification software tools | High-throughput sequencing data analysis
From prokaryotes to eukaryotes, phenotypic variation, adaptation and speciation has been associated with structural variation between genomes of individuals within the same species. Many computer algorithms detecting such variations (callers) have recently been developed, spurred by the advent of the next-generation sequencing technology. Such callers mainly exploit split-read mapping or paired-end read mapping.
Detects breakpoints of large deletions and medium sized insertions from paired-end short reads. Pindel is a program that uses pattern growth algorithm to identify the break points of large deletions (1 bp–10 kb) and medium sized insertions (1–20 bp) from 36 bp paired-end short reads. The software can be useful for addressing the structural variations between individuals from next-gen high throughput sequencing.
A Perl/C++ package that provides genome-wide detection of structural variants from next generation paired-end sequencing reads. BreakDancer sensitively and accurately detected indels ranging from 10 base pairs to 1 megabase pair that are difficult to detect via a single conventional approach.
Retrieves balanced and unbalanced forms of structural variation, such as deletions, tandem duplications, inversions and translocations. DELLY is based on a combination of short-range and long-range paired-end mapping and split-read analysis. It is useful for massively parallel sequencing (MPS) data from various sources, including deep whole-genome sequencing data and low-pass mate-pair sequencing data with longer inserts.
A system to provide a flexible and usable Web environment for defining and running bioinformatics analyses. It embeds simple yet powerful data management features that allow the user to reproduce analyses and to combine tools using a hierarchical typing system. Mobyle offers invocation of services distributed over remote Mobyle servers, thus enabling a federated network of curated bioinformatics portals without the user having to learn complex concepts or to install sophisticated software.
Automatically detects copy number alterations (CNAs) and loss of heterozygosity (LOH) regions using next-generation sequencing (NGS) data. Control-FREEC consists of three steps: (i) calculation and segmentation of copy number profiles, (ii) calculation and segmentation of smoothed BAF profiles; and (iii) prediction of final genotype status. The software can call genotype status including when no control experiment is available and/or the genome is polyploid. It also corrects for GC-content and mappability biases.
Offers a solution for analyzing desktop sequencing data produced by the Roche Junior, Illumina MiSeq or ION PGM™. NextGENe is a program that includes analysis modules for: copy number variation (CNV), alternate splicing of exons and transcript expression levels, single nucleotide polymorphism (SNP)/INDEL and structural variant analysis (resequencing and Amplicon analysis), prediction and rare disease discovery, as well as whole genome alignment or transcriptome.
A tool designed for efficient and accurate variant-detection in high-throughput sequencing data. By using local realignment of reads and local assembly it achieves both high sensitivity and high specificity. Platypus can detect SNPs, MNPs, short indels, replacements and (using the assembly option) deletions up to several kb. It has been extensively tested on whole-genome, exon-capture, and targeted capture data.