Software/list
< Software
For breakdowns and stuff see...
Summary text | Biological category | Method category | Created by | |
---|---|---|---|---|
.NET BIO | ".NET Bio is an open source library of common bioinformatics functions, intended to simplify the creation of life science applications. The core library implements a range of file parsers and formatters for common file types, connectors to commonly-used web services such as NCBI BLAST, and standard algorithms for the comparison and assembly of DNA, RNA and protein sequences. Sample tools and code snippets are also included." | Sequence analysis | ||
4peaks | Allows viewing sequencing trace files, motif searching trimming, BLAST and exporting sequences. | Sequencing | Sequence analysis | mekentosj |
A5 | A5 is an integrative pipeline for genome assembly that automates sequence data cleaning, error correction, assembly, and quality control by chaining a number of programs together with additional custom algorithms. | Sequence assembly | De-novo assembly | Andrew Tritt Jonathan A. Eisen Marc T. Facciotti Aaron E. Darling |
AB Large Indel Tool | Identifies deviations in clone insert size that indicate intra-chromosomal structural variations compared to a reference genome. | Indel detection Sequencing | Mapping | ABI |
AB Small Indel Tool | The SOLiD™ Small Indel Tool processes the indel evidences found in the pairing step of the SOLiD™ System Analysis pipeline Tool (Corona Lite). | Indel detection Sequencing | Read mapping Sequence alignment | ABI |
ABBA | Assembly Boosted By Amino acid sequence is a comparative gene assembler, which uses amino acid sequences from predicted proteins to help build a better assembly | Sequence assembly | Sequence assembly Scaffolding | |
ABMapper | Maps RNA-Seq reads to target genome considering possible multiple mapping locations and splice junctions | Genomics Transcriptomics | Read mapping Sequence alignment | Shaoke Lau |
ABySS | ABySS is a de novo sequence assembler designed for short reads and large genomes. | Sequence assembly (de novo assembly) | Sequence assembly Sequence assembly (de-novo assembly) | Simpson J Jackman S Birol I |
Adapter Removal (software) | Removes adaptor fragments from raw short read sequence data and outputs data to FASTA format. | Workflows | Adapter removal | Stocks MB Mapleson D Moxon S |
ADTEx | Aberration Detection in Tumour Exome (ADTEx) is a tool for copy number variation (CNV) detection for whole-exome data from paired tumour/matched normal samples. | Copy number estimation Exome analysis Cancer biology Next Generation Sequencing | Statistical calculation | Kaushalya Amarasinghe |
AGE | AGE is a tool that implements an algorithm for optimal alignment of sequences with SVs. | Structural variation | Sequence alignment | |
AGILE | A hash table based high throughput sequence mapping algorithm for longer 4A54 reads that uses diagonal multiple seed-match criteria, customized q-gram filtering and a dynamic incremental search approach among other heuristics to optimize every step of the mapping process | Mapping | Sanchit Misra Ankit Agrawal Wei-keng Liao Alok Choudhary | |
Agp2amos | missing | Formatting | ||
Alcovna | ALgorithms for COmparing and Visualizing Non Assembled data | SNP detection | ||
ALEXA-Seq | Alternative Expression Analysis by massively parallel RNA sequencing | RNA-Seq quantification Alternative splicing | ||
ALLPATHS | De novo assembly of whole-genome shotgun microreads. | Sequence assembly (de novo assembly) | Sequence assembly Sequence assembly (de-novo assembly) | |
Alta-Cyclic | Alta-Cyclic is a Illumina Genome-Analyzer (Solexa) base caller. | Base-calling | ||
AMOS | AMOS is a Modular, Open-Source whole genome assembler. | Sequence assembly Sequence assembly validation Integrated solution Formatting Sequence assembly visualisation | Pop M | |
ANCHOR | Post-processing tools for de novo assemblies | De-novo assembly | Sequence assembly | |
AnCorr | Webserver/tool for evaluation coordinate and ordinal correlations between genomic tracks and/or expression or protein binding profiles. | Genomics | Statistical calculation Correlation | Kravatsky YV Chechetkin VR Kravatskaya GI |
Anno-J | Annotation Browsing 2.0 | Sequencing | Visualisation | Julian Tonti-Filippini |
ANNOVAR | ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data | Genomics Genetics | Annotation Variant prioritisation | Kai Wang |
Arachne | ARACHNE is a program for assembling data from whole genome shotgun sequencing experiments. | Sequence assembly | Batzoglou S Jaffe DB Stanley K Butler J Gnerre S Mauceli E Berger B Mesirov JP Lander ES | |
AREM | AREM: Aligning Short Reads from ChIP-sequencing by Expectation Maximisation | ChIP-seq | Read mapping Peak calling | Daniel Newkirk Jacob Biesinger Alvin Chon |
Arf | arf is a genetic analysis program for sequencing data. | |||
Array Suite (Array Studio/Server) | Array Studio is a complete analysis and visualization package for NextGen sequencing data, as well as other -OMIC data types. Array Server is a backend enterprise server for storage and analysis of -OMIC and NextGen sequencing data. | Genomics SNP detection Indel detection | Read mapping Gene expression profiling | Omicsoft Corporation |
ArrayExpressHTS | R-based pipeline for RNA-Seq data analysis. | RNA-Seq RNA-Seq quantification | ||
ArrayStar | ArrayStar is an easy-to-use gene expression analysis software package that offers powerful visualization and statistical tools to help you analyze your microarray data. | Gene expression analysis | Statistical calculation Differential expression analysis Ontology comparison Genetic variation analysis | |
ASC | Empirical Bayes method to detect differential expression. | RNA-Seq quantification | Statistical calculation and probability | |
ATAC | ATAC is a computational process for comparative mapping between two genome assemblies, or between two different genomes. | Sequence alignment Sequence assembly validation | Walenz B Florea L Mobarry C Sutton G | |
Atlas Suite | Atlas is a suite of variant analysis tools specializing in the separation of true SNPs and insertions and deletions (indels) from sequencing and mapping errors in Whole Exome Capture Sequecing (WECS) data. SNPs may be called using the Atlas-SNP2 application and indels may be called using the Atlas-Indel2 application. | SNP detection Indel detection | Variant calling | Fuli Yu Danny Challis Jin Yu Uday Evani |
Atlas-SNP2 | Atlas-SNP2 is a SNP detection tool developed for next generation sequencing platforms | SNP detection | ||
Avadis NGS | Strand NGS formerly Avadis NGS is a desktop software platform for alignment, analysis, visualization, and management of data generated by next-generation sequencing (NGS) platforms. It supports workflows for RNA-Seq, DNA-Seq, small RNA-Seq, ChIP-seq, and Methyl-Seq data analysis. Strand NGS is designed with the biologist in mind. | ChIP-seq RNA-Seq Sequencing DNA-Seq Small RNA-Seq RNA Methyl-Seq MeDIP-Seq Pathway or network analysis | Sequence alignment Visualisation Sequencing quality control Sequence analysis Analysis Biological interpretation | Yeshodari |
Baa.pl | use transcripts to assess a de novo assembly | Sequence assembly (de novo assembly) | Sequence assembly validation Sequence alignment analysis | Ryan JF |
Bambino | Variant detector and graphical alignment viewer for SAM/BAM format data. | SNP detection Genetic variation | ||
Bambus | Bambus is a general purpose scaffolder | Scaffolding | Koren S Pop M | |
BAMseek | BAMseek is a large file viewer for BAM and SAM alignment files. | Genomics Transcriptomics | Sequence alignment visualisation | BAMseek |
BamTools | BamTools provides a fast, flexible C++ API & toolkit for reading, writing, and managing BAM files. | Sequence alignment analysis | Derek Barnett | |
BamView | Interactive Java application for visualising the large amounts of data stored for sequence reads which are aligned against a reference genome sequence | Visualisation | ||
Barcode generator | Generator of sequence barcodes suitable for Illumina sequencing. | DNA barcoding | ||
Barcrawl Bartab | Barcrawl facilitates the design of barcoded primers, for multiplexed high-throughput sequencing. | DNA barcoding | ||
BarraCUDA | Barracuda is a high-speed sequence aligner based on BWA and uses the latest Nvidia CUDA architecture for accelerating alignments of sequence reads generated by the next-generation sequencers. | Sequence analysis | Read mapping Sequence alignment | Bill Langdon Petr Klus Simon Lam Giles Yeo Brian Lam |
Batman | Bayesian tool for methylation analysis (Batman) for analyzing methylated DNA immunoprecipitation (MeDIP) profiles | DNA methylation | ||
BayesCall | Bayesian basecaller | Sequencing | Base-calling | |
BayesPeak | A Bayesian hidden Markov model to detect enriched locations in ChIP-seq data. | ChIP-seq Simulation experiment | Statistical calculation | |
BaySeq | Identify differential expressed genes | RNA-Seq quantification | Differential expression analysis | Thomas J. Hardcastle |
BBMap | BBMap is a fast splice-aware aligner for RNA and DNA. It is faster than almost all short-read aligners, yet retains unrivaled sensitivity and specificity, particularly for reads with many errors and indels. | Sequence alignment Whole genome resequencing RNA-Seq alignment SNP detection Metagenomics Phylogenetics Alternative splicing Resequencing Quality control Read binning | Read mapping Sequence alignment Sequence contamination filtering Sequence trimming RNA-Seq analysis | Brian Bushnell |
BBSeq | Tool for analyzing RNA-Seq data to analyze gene expression | RNA-Seq quantification | ||
Bcbio-nextgen | Python scripts and modules for automated next gen sequencing analysis. These provide a fully automated pipeline for taking sequencing results from an Illumina sequencer, converting them to standard Fastq format, aligning to a reference genome, doing SNP calling, and producing a summary PDF of results. | Workflows | Read mapping Sequence alignment Peak calling Sequence motif recognition Genotyping Sequencing quality control Differential expression analysis Sequence trimming Filtering Genomic region matching | Brad Chapman et al. |
BEADS | ChIP-seq data normalization for Illumina | ChIP-seq | Standardisation and normalisation | |
BEAP | The Blast Extension and Assembly Program (BEAP) uses a short starting DNA fragment to recursively blast nucleotide databases to obtain all sequences that overlaps to construct the a "full length" sequence. | Read mapping | ||
BEDTools | BEDTools is an extensive suite of utilities for comparing genomic features in BED format. | Genomics | Mapping | Aaron Quinlan |
Bedutils | NGSUtils is a suite of software tools for working with next-generation sequencing datasets. Staring in 2009, we (Liu Lab @ Indiana University School of Medicine) starting working with next-generation sequencing data. We initially started doing custom coding for each project in a one-off manner. It quickly became apparent that this was an inefficient manner to work, so we started assembling smaller utilities that could be adapted into larger, more complicated, workflows. We have used them for Illumia, SOLiD and 454 sequencing data. We have used them for DNA and RNA resequcing, ChIP-seq, CLIP-Seq, and targeted resequencing (Agilent exome capture and PCR targeting). These tools are also used heavily in our in-house DNA and RNA mapping pipelines.
These tools have of great use within our lab group, and so we are happy to make them available to the greater community. NGSUtils is made up of 50+ programs, mainly written in Python. These are separated into modules based on the type of file that is to be analyzed. There are four modules: | |||
Belvu | An X-windows viewer for multiple sequence alignments | Sequence alignment visualisation | Sonnhammer ELL; Hollich V | |
BFAST | Blat-like Fast Accurate Search Tool. | Whole genome resequencing | Read mapping Sequence alignment Genome indexing | Nils Homer Stanley F. Nelson and Barry Merriman |
BFCounter | BFCounter is a program for counting k-mers in DNA sequence data. | K-mer counting | Pall Melsted | |
BigBWA | Tool to run the Burrows-Wheeler Aligner-BWA on a Hadoop cluster. It supports the algorithms BWA-MEM, BWA-ALN, and BWA-SW, working with paired and single reads. It implies an important reduction in the computational time when running in a Hadoop cluster, adding scalability and fault-tolerancy. | Whole genome resequencing Genomics Exome capture Sequencing Resequencing Exome and whole genome variant detection Exome analysis Exome | Read mapping Sequence alignment Mapping | Abuin JM Pichel JC Pena TF Amigo J |
BING | biomedical informatics pipeline (BING) for the analysis of NGS data that offers several novel computational approaches to 1. image alignment, 2. signal correlation, compensation, separation, and pixel-based cluster registration, 3. signal measurement and base calling, 4. quality control and accuracy measurement. | Base-calling Sequencing quality control | ||
BioJava | "BioJava is an open-source project dedicated to providing a Java framework for processing biological data. It provides analytical and statistical routines, parsers for common file formats and allows the manipulation of sequences and 3D structures. The goal of the biojava project is to facilitate rapid application development for bioinformatics. " | Genomics | ||
Bionimbus | Cloud environment for analysis of microarray and second generation sequencing data. | |||
BioNumerics | BioNumerics can be used for the analysis of all major applications in bioinformatics | Sequence assembly Whole genome resequencing Genotyping Sequence analysis Comparative genomics Quality control Workflows Data handling Microbial Surveillance Epidemiology | Sequence assembly Read mapping Sequence alignment Annotation Genome visualisation Variant calling Comparative genomics Workflows | |
BioPerl | "BioPerl, a community effort to produce Perl code which is useful in biology. " | Genomics | ||
BioPHP | biology tools for php. | Genomics | ||
Biopieces | The Biopieces are a collection of bioinformatics tools that can be pieced together in a very easy and flexible manner to perform both simple and complex tasks. The Biopieces work on a data stream in such a way that the data stream can be passed through several different Biopieces, each performing one specific task: modifying or adding records to the data stream, creating plots, or uploading data to databases and web services. | Genomics | Sequence alignment Visualisation Sequencing quality control Sequence analysis | Martin A. Hansen |
Biopython | Biopython provides a tool kit for writing bioinformatics and computational molecular biology software in Python. | Sequence analysis Phylogenetics Population genetics Protein structure analysis | Sequence parsing | Biopython Project |
BioRuby | "BioRuby comes with a comprehensive set of free development tools and libraries for bioinformatics and molecular biology, for the Ruby programming language. BioRuby has components for sequence analysis, pathway analysis, protein modelling and phylogenetic analysis; it supports many widely used data formats and provides easy access to databases, external programs and public web services, including BLAST, KEGG, GenBank, MEDLINE and GO." | Genomics | ||
BioSmalltalk | BioSmalltalk provides an environment to build bioinformatics scripts and applications using the most powerful object technology as of today, the Smalltalk programming environment | Sequence analysis Phylogenetics Population genetics Protein structure analysis | Sequence parsing | BioSmalltalk Project |
BiQ Analyzer | BiQ Analyzer is a software tool for easy visualization and quality control of DNA methylation data. With more than 2,000 downloads so far, BiQ Analyzer has become a standard tool for processing DNA methylation data from bisulfite sequencing. | DNA methylation Epigenomics | ||
BiQ Analyzer HT | BiQ Analyzer HT is an enhanced version of BiQ Analyzer that provides extensive support for high-throughput bisulfite sequencing. BiQ Analyzer HT facilitates the processing, quality control and initial analysis of single-basepair resolution DNA methylation data. It was developed for deep bisulfite sequencing of one or more loci using the Roche 454 platform, but it easily extends to other sequencing platforms. BiQ Analyzer HT features a biologist-friendly graphical user interface, a fast alignment algorithm and a variety of ways to visualize DNA methylation data. | DNA methylation Sequencing Epigenetics | ||
Bis-SNP | BisSNP is a package based on the Genome Analysis Toolkit (GATK) map-reduce framework for genotyping in bisulfite treated massively parallel sequencing (Bisulfite-seq, NOMe-seq and RRBS) on Illumina platform. It uses bayesian inference with either manually specified or automatically estimated methylation probabilities of different cytosine context(not only CpG, CHH, CHG in Bisulfite-seq, but also GCH et.al. in other bisulfite treated sequencing) to determine genotypes and methylation levels simultaneously. | DNA methylation SNP detection Sequencing Genotyping Epigenetics | Bisulfite mapping SNP calling Methylation calling | Liu Y (dnaase) |
Bismark | Bismark is a tool to map bisulfite treated sequencing reads and perform methylation calling in a quick and easy-to-use fashion. | Genomics DNA methylation Epigenomics | Read mapping Bisulfite mapping Methylation calling | Felix Krueger |
Bison | Bison allows users with access to a computer cluster to rapidly align whole-genome bisulfite sequencing or RRBS reads. It can align both directional and non-directional libraries and uses bowtie2. | DNA methylation Sequencing Epigenetics | Read mapping Bisulfite mapping Methylation calling | Devon P. Ryan |
BLAST | BLAST finds regions of similarity between biological sequences. The program compares nucleotide or protein sequences to sequence databases and calculates the statistical significance. | Sequence analysis | ||
BLAST Ring Image Generator | "BRIG is a cross-platform (Windows/Mac/Unix) application that can display circular comparisons between a large number of genomes, with a focus on handling genome assembly data. " | Comparative genomics | Visualisation Sequence assembly visualisation | Nabil-Fareed Alikhan Nicola K Petty Nouri L Ben Zakour and Scott A Beatson |
BLAT | Fast, accurate spliced alignment of DNA sequences | Read mapping Sequence alignment | Jim Kent | |
Blixem | a graphical blast viewer | Sequence analysis Phylogenetics | Sequence alignment visualisation | Sonnhammer ELL Durbin R |
BOAT | Can accurately and efficiently map sequencing reads back to the reference genome. | Read mapping | ||
Bort | Bort parses Blast output and quantifies hits by contig and read counts. | RNA-Seq quantification | Benjamin Rieger Steffen Rapp Hanno Schmidt | |
BOW | BOW - Bioinformatics On Windows is essentially a windows port of BWA and SAMTOOLS | |||
Bowtie | Bowtie is an ultrafast, memory-efficient short read aligner. | Read mapping Genome indexing (Burrows-Wheeler) | Ben Langmead Cole Trapnell Mihai Pop Steven Salzberg | |
BRAT | accurate and efficient tool for mapping short reads obtained from the Illumina Genome Analyzer following sodium bisulfite conversion. Both single and paired ends are supported. | DNA methylation Epigenomics | Bisulfite mapping Mapping | |
BRCA-diagnostic | Computational screening test for BRCA1/2 mutants in human genomic DNA | Personalised medicine | ||
BreakDancer | BreakDancer is an application for detecting structural rearrangements and indels in short read sequencing data | Genomics Indel detection Structural variation | ||
Breakpointer | Breakpointer is a fast tool for locating sequence breakpoints from the alignment of single end reads (SE) produced by next generation sequencing (NGS). It adopts a heuristic method in searching for local mapping signatures created by insertion/deletions (indels) or more complex structural variants(SVs). With current NGS single-end sequencing data, the output regions by Breakpoint mainly contain the approximate breakpoints of indels and a limited number of large SVs. | Indel detection Exome and whole genome variant detection | Statistical calculation | Sun R |
BreakSeq | Database of known human breakpoint junctions and software to search short reads against them. | Structural variation | Read mapping | |
BreakTrans | BreakTrans is a computer program that maps predicted gene fusions to genomic structural rearrangements so as to validate both types of events. | Post-analysis | ||
Breakway | Breakway is a suite of programs that take aligned genomic data and report structural variation breakpoints. | Whole genome resequencing Genomics Indel detection Structural variation Genetic variation | SNP calling Sequence analysis | Clark MJ |
BS Seeker | Mapping tool for bisulfite treated reads | Epigenomics | Bisulfite mapping | Chen PY Cokus SJ Pellegrini M |
BS-Seq | The source code and data for the "Shotgun Bisulphite Sequencing of the Arabidopsis Genome Reveals DNA methylation Patterning" Nature paper by Cokus et al. (Steve Jacobsen's lab at UCLA). POSIX. | Epigenomics | Bisulfite mapping | |
BSMAP | short reads mapping software for bisulfite sequencing | DNA methylation | Read mapping Bisulfite mapping | Yuanxin Xi |
BSSim | BSSim: Bisulfite sequencing simulator for next-generation sequencing. | DNA methylation Sequencing Epigenetics | Modelling and simulation | Luke You Jinyu Wu |
Btrim | Btrim is a fast and lightweight software to trim adapters and low quality regions in reads. | Sequence trimming | ||
BWA | Fast, accurate, memory-efficient aligner for short and long sequencing reads | Mapping | Read mapping | Heng Li and Richard Durbin |
BWA-SW | Fast, accurate, memory-efficient aligner for long sequencing reads | Mapping | Read mapping | Heng Li and Richard Durbin |
CABOG | Celera Assembler is scientific software for DNA research. | Sequence assembly (de novo assembly) | Sequence assembly | |
CANGS | CANGS is a flexible and user-friendly utility to trim sequences, filter low quality sequences, and produce input files for further downstream analyses for 454 sequences. CANGS can be used to assign the taxonomic grouping based on similarity with sequences from the NCBI database | Metagenomics Phylogenetics | Sequencing quality control Sequence trimming Primer removal | Ram Vinay Pandey Viola Nolte and Christian Schlötterer |
CARPET | A web‐based package for the analysis of ChIP‐chip and expression tiling data | ChIP-on-chip | Genotyping | |
CASHX | Parse, map, quantify and manage large quantities of short-read sequence data. | Transcriptomics | Read mapping | James Carrington |
CATCH | A tool for exploring patterns in ChIP profiling data. | ChIP-seq ChIP-on-chip | Sequence alignment Clustering | Nielsen FG |
CatchAll | Estimate ecological diversity with both parametric and non-parametric estimators. | Metagenomics Population genetics | John Bunge | |
CEQer | CEQer (Comparative Exome Quantification analyzer) is a graphical, event-driven tool for copy number abnormalities/allelic-imbalance coupled analysis of whole-exome sequencing data. By using case-control matched exome data, CEQer performs a comparative digital exonic quantification to generate CNA data and couples this information with exome-wide LOH and allelic imbalance detection. | Copy number estimation Genetic variation analysis Exome analysis | Piazza Rocco | |
CexoR | Strand specific peak-pair calling in ChIP-exo data | ChIP-exo | Peak calling | Pedro Madrigal |
CGA Tools | Tools for viewing, manipulating and converting data from Complete Genomics | File reformatting | ||
CHiCAGO | CHiCAGO (Capture HiC Analysis of Genomic Organization) is a set of tools for calling significant interactions in Capture HiC data, such as Promoter Capture HiC. | Epigenomics | Peak calling | Jonathan Cairns Paula Freire Pritchett Mikhail Spivakov |
ChimeraScan | Identifies chimaeric transcripts in RNA-Seq data | Gene structure | ||
ChIP-Seq (application) | The ChIP-seq web server provides access to a set of useful tools performing common ChIP-seq data analysis tasks, including positional correlation analysis, peak detection, and genome partitioning into signal-rich and signal-poor regions. It is an open system designed to allow interoperability with other resources, in particular the motif discovery programs from the Signal Search Analysis (SSA) server. | ChIP-seq | Read mapping Peak calling | Giovanna Ambrosini Philipp Bucher |
ChIPmeta | Combining data from ChIP-seq and ChIP-chip. | ChIP-seq ChIP-on-chip Transcription factors and regulatory sites | Peak calling | |
ChIPMunk | ChIPMunk is a fast heuristic DNA motif digger based a on greedy approach accompanied by bootstrapping. ChIPMunk identifies the strong motif with the maximum Kullback Discrete Information Content in a given set of DNA sequences. | ChIP-seq Sequence motifs | Sequence motif comparison Sequence motif discovery | Kulakovskiy IV Boeva VA Favorov AV Makeev VJ |
CHiPSeq | From Science Johnson, 2007 | ChIP-seq | Peak calling | Johnson DS Mortazavi A Myers RM Wold B |
ChIPseqR | ChIP-seq qanalysis tool | ChIP-seq | ||
Chipster | User-friendly NGS data analysis software with built-in genome browser and workflow functionality. Chipster includes tools for ChIP-seq, RNA-seq, miRNA-seq and MeDIP-seq analysis, and functionality for exome-seq and CGH-seq will soon be added. | DNA methylation ChIP-seq RNA-Seq Immunoprecipitation experiment | Read mapping Peak calling Sequence motif recognition Genome visualisation Sequencing quality control Differential expression analysis Sequence trimming Pathway or network analysis Methylation analysis | Kallio A Hupponen T Gentile M Tuimala J Klemelä P Scheinin I Mattila K Saren A-M Naktinis R Korpelainen E |
ChromaSig | An unsupervised learning method, which finds, in an unbiased fashion, commonly occurring chromatin signatures in both tiling microarray and sequencing data. | ChIP-on-chip Chromatin | Sequence motif recognition | |
ChromHMM | ChromHMM is software for learning and characterizing chromatin states. | Epigenomics | Statistical calculation | Ernst J Kellis M |
Circos | Circos is tool for visualizing data in a circular format. It was developed for genomic data but can work for many other kinds of data as well. | Comparative genomics | Visualisation | Martin I Krzywinski Jacqueline E Schein Inanc Birol Joseph Connors Randy Gascoyne Doug Horsman Steven J Jones and Marco A Marra |
CisGenome | An integrated tool for tiling array, ChIP-seq, genome and cis-regulatory element analysis | ChIP-seq ChIP-on-chip Sequence motifs | Sequence motif recognition Gibbs sampling Integrated solution Data retrieval | |
Cistrome | Galaxy-based web service for analysis of ChIP data | ChIP-seq ChIP-on-chip | ||
CLCbio Genomics Workbench | De novo and reference assembly SNP and small indel detection and annotation. | Sequence assembly (de novo assembly) Whole genome resequencing Genomics Transcriptomics ChIP-seq SNP detection Indel detection RNA-Seq Regulatory RNA Mapping | Sequence assembly Sequence assembly (de-novo assembly) Read mapping Sequence alignment Ab-initio gene prediction Adapter removal Annotation Bisulfite mapping SNP calling Heat map generation Sequence assembly validation | Knudsen T Knudsen B |
Clean reads | clean_reads cleans NGS (Sanger, 454, Illumina and solid) reads. | Sequencing quality control Sequence trimming | ||
CleaveLand | A pipeline for using degradome data to find cleaved small RNA targets. | Regulatory RNA | ||
CLEVER | CLEVER is a tool to discover structural variations such as (larger) insertions and deletions in genomes from paired-end sequencing reads. | Genomics Structural variation Copy number estimation | Tobias Marschall | |
ClipCrop | a new method and implementation named ClipCrop for detecting SVs with single-base resolution | Whole-genome sequencing | ||
CloudAligner | Hadoop-based short read aligner | Read mapping Hadoop | ||
CloudBurst | CloudBurst is a parallel read-mapping algorithm optimized for mapping next-generation sequence data to the human genome and other reference genomes. | SNP detection Genotyping Personalised medicine | Read mapping | Schatz MC |
ClustDB | A powerful tool for exact sequence matching | |||
Cluster Flow | A command-line pipeline tool which uses common cluster managers to run bioinformatics analysis pipelines. | Analysis pipeline | Ewels PA | |
CNANorm | A normalization method for Copy Number Aberration in cancer samples. | Genomics Copy number estimation Cancer biology | Peak calling Standardisation and normalisation | Stefano Berri and Arief Gusnanto |
CNAseg | We present a novel approach, called CNAseg, to identify CNAs from second-generation sequencing data. It uses depth of coverage to estimate copy number states and flowcell-to-flowcell variability in cancer and normal samples to control the false positive rate. | Structural variation | ||
CNB MetaGenomics tools | A number of tools and meta-tools developed at CNB/CSIC for the analysis of metagenomics data (some rely on QIIME). | Metagenomics Sequencing | Jose R Valverde | |
CnD | Program to detect copy number variation in inbred mouse strains | Copy number estimation | ||
CNVer | CNVer is a method for CNV detection that supplements the depth-of-coverage with paired-end mapping information, where matepairs mapping discordantly to the reference serve to indicate the presence of variation. CNVer combines this information within a unified computational framework called the donor graph, allowing it to better mitigate the sequencing biases that cause uneven local coverage. CNVer can also reconstruct the absolute copy counts of segments of the donor genome, and work with low coverage datasets. | Structural variation Copy number estimation | ||
CnvHMM | WashU copy number variant (CNV) detection algorithm for Illumina/Solexa data. | Structural variation | Ken Chen Xiaoqi Shi | |
CNVkit | CNVkit is a software toolkit to infer and visualize copy number from targeted DNA sequencing data. | Structural variation Copy number estimation | Variant calling | Talevich E |
CNVnator | CNV discovery and genotyping from read-depth analysis of personal genome sequencing | Genotyping Copy number estimation | Abyzov A Urban AE Snyder M Gerstein M | |
CNVseq | CNV-seq, a method to detect copy number variation using high-throughput sequencing. pubmed | Copy number estimation | ||
CompreheNGSive | compreheNGSive is an interactive visualization of the end results of the next-generation sequencing pipeline. | Next Generation Sequencing | Visualisation | Alex Bigelow |
CoNAn-SNV | CoNAn-SNV is a probabilistic framework for the discovery of single nucleotide variants in WGSS data. This software explicitly integrates information about copy number state of different genomic segments into the inference of single nucleotide variants. | SNP detection | ||
ConDeTri | ConDeTri is a content dependent read trimming software for Illumina/Solexa sequencing data | Genomics RNA-Seq Sequencing | Sequence trimming | |
ContEst | GATK tool to estimate amount of cross-individual contaminating sequence in a dataset | Metagenomic sequencing | Sequencing quality control | |
Contra | Copy number analysis for exome-sequencing / targeted-resequencing. Two methods of analysis available: Case vs Control, or Case vs Baseline. Function available for creating a baseline from multiple samples. | Genomics Sequencing Copy number estimation Cancer biology | Jason Li | |
Contrail | A Hadoop based genome assembler for assembling large genomes in the clouds | Sequence assembly (de novo assembly) | Sequence assembly Sequence assembly (de-novo assembly) Hadoop | |
CopySeq | CopySeq analyzes the depth-of-coverage of whole genome resequencing data to predict CNVs and to infer quantitative locus copy-number genotypes. | Structural variation Genotyping Personalised medicine Copy number estimation | ||
Coral | Corrects sequencing errors in short read data via multiple alignments | Sequence error correction | L. Salmela | |
CORAL (Contig Ordering Algorithm) | An algorithm has been developed to order fingerprinted clones within contigs. | Sequence error correction | Teague K | |
Cortex | Cortex is an efficient and low-memory software framework for analysis of genomes using sequence data. Cortex allows de novo assembly of variants without having to do a consensus assembly first. Also allows comparison of genomes without using consensus, and alignment of sequence data to a de Bruijn graph | Genomics | Sequence assembly Variant calling | Mario Caccamo Zamin Iqbal |
CPTRA | Integrated transcriptome analysis from Sanger, 454, Solexa, SOLiD, etc reads | RNA-Seq alignment RNA-Seq quantification | ||
CRAC | CRAC is a mapping software specialized for RNA-Seq data. It detects mutations, indels, splice or fusion junctions in each single read. | RNA-Seq alignment SNP detection Indel detection RNA-Seq quantification Alternative splicing Gene structure | Read mapping Genome indexing (Burrows-Wheeler) | Philippe N Salson M Commes T Rivals E |
CRAVAT | CRAVAT is a web-based resource for cancer-related analysis of genomic variants (single base substitutions and indels). CRAVAT provides scoring, sorting, filtering, and interactive visualizations to assist with identification of important variants. | Genomics Genetic variation Genetics | Annotation Variant prioritisation SNP annotation Variant classification Sequence annotation | |
CRISP | Identifies rare and common variants in pooled sequencing data | SNP detection | ||
Crossbow | Crossbow is a cloud-computing software tool that combines the aligner BOWTIE and the SNP caller SOAPsnp. | SNP detection | Read mapping | |
CUDA-EC | A scalable parallel algorithm for correcting sequencing errors in high-throughput short-read data so that error-free reads can be available before DNA fragment assembly. | Sequencing quality control | ||
Cufflinks | Cufflinks assembles transcripts and estimates their abundances in RNA-Seq samples. It accepts aligned RNA-Seq reads and assembles the alignments into a parsimonious set of transcripts. Cufflinks then estimates the relative abundances of these transcripts based on how many reads support each one. | Transcriptomics RNA-Seq alignment RNA-Seq RNA-Seq quantification Alternative splicing | Read mapping Transcriptome assembly Differential expression analysis | Cole Trapnell |
CummeRbund | Allows for persistent storage, access, exploration, and manipulation of Cufflinks high-throughput sequencing data. In addition, provides numerous plotting functions for commonly used visualizations. | RNA-Seq quantification | Visualisation | L. Goff C. Trapnell |
Curtain | Curtain is a Java wrapper around next-generation assemblers such as Velvet which allows the incremental introduction of read-pair information into the assembly process. This enables the assembly of larger genomes than would otherwise be possible within existing memory constraints. | Sequence assembly (de novo assembly) | Sequence assembly Sequence assembly (de-novo assembly) | Haimel M |
Cutadapt | remove adapter sequences from high-throughput sequencing data using alignment | Marcel Martin | ||
DCLIP | dCLIP is a Perl program for discovering differential binding regions in two comparative CLIP-Seq (HITS-CLIP, PAR-CLIP or iCLIP) experiments. | CLIP-Seq HITS-CLIP PAR-CLIP ICLIP | Sequence alignment analysis | Tao Wang |
DecGPU | Parallel and distributed error correction algorithm for high-throughput short reads. | Sequence assembly (de novo assembly) | Sequence error correction | |
DeconSeq | DeconSeq can be used to automatically detect and efficiently remove any type of sequence contamination from metagenomic datasets, including human or other host sequences. The tool uses a modified version of the BWA-SW aligner and can be applied to longer-read datasets (150+bp read length). DeconSeq is available as both standalone and web-based versions. | Genomics Transcriptomics Metagenomics | Sequence contamination filtering | Robert Schmieder |
DeepTools | User-friendly tools for the normalization and visualization of deep-sequencing data. | Genomics ChIP-seq | Visualisation Conversion Standardisation and normalisation | Fidel Ramírez Friederike Dündar Björn Grüning Sarah Diehl Thomas Manke |
DeFuse | deFuse is a software package for gene fusion discovery using RNA-Seq data. The software uses clusters of discordant paired end alignments to inform a split read alignment analysis for finding fusion boundaries. The software also employs a number of heuristic filters in an attempt to reduce the number of false positives and produces a fully annotated output for each predicted fusion | RNA-Seq Gene structure | ||
DEGseq | an R package to identify differentially expressed genes or isoforms for RNA-seq data from different samples | RNA-Seq quantification | Differentially expressed gene identification | Likun Wang Zhixing Feng Xi Wang Xiaowo Wang and Xuegong Zhang |
DESeq | DESeq is an R package to analyse count data from high-throughput sequencing assays such as RNA-Seq and test for differential expression. The latest version is DESeq2 (released April 2013). | ChIP-seq RNA-Seq quantification | Sequencing quality control Statistical testing | Anders S |
DIAL | A computational pipeline for identifying single-base substitutions between two closely related genomes without the help of a reference genome. | SNP detection Comparative genomics | ||
DiBayes | Bayesian identification of SNPs in color space (SOLiD) data | SNP detection | ABI | |
DiffBind | Differential Binding Analysis of ChIP-seq peak data Compute differentially bound sites from multiple ChIP-seq experiments using affinity (quantitative) data. Also enables occupancy (overlap) analysis and plotting functions. | ChIP-seq | Differential binding sites | Rory Stark |
Diffreps | diffReps is developed to find different peaks in ChIP-seq. It scans the whole genome using a sliding window, performing millions of statistical tests and report the significant hits. diffReps takes into account the biological variations within a group of samples and uses that information to enhance the statistical power. Considering biological variation is of high importance, especiallly for in vivo brain tissues. | ChIP-seq | Differential Binding | Li SHEN |
Dindel | Calls small indels from short-read sequence data | Indel detection | Localised reassembly | |
DiscoSnp | discoSnps : qualitative de-novo SNP caller. Extremely low memory and time efficient. No reference genome needed. Call both homozygous and heterozygous SNPs. | Sequence assembly (de novo assembly) Sequencing Genotyping Comparative genomics High-throughput sequencing Population Genomics | Sequence assembly (de-novo assembly) Read depth analysis | Raluca Uricaru Pierre Peterlongo Claire Lemaitre Rayan Chikhi Guillaume Rizk |
DNA Baser | Tool for manual and automatic sequence assembly, analysis, editing, sample processing, metadata integration, file format conversion and mutation detection. | SNP detection Structural variation | Sequence assembly Sequence analysis Sequence assembly editing | Heracle BioSoft SRL |
DNA Chromatogram Explorer | DNA Chromatogram Explorer is a Windows Explorer clone dedicated to DNA sequence analysis and manipulation. | Sequence analysis | File reformatting Chromatogram visualisation | |
DNAA | DNAA (DNA Analysis) software for analysis of Next-Generation Sequencing data. | DNA methylation SNP detection Structural variation | Sequencing quality control Modelling and simulation Statistical calculation | Homer N |
DNaseR | DNase I footprinting analysis of DNase-seq data in R | DNase-seq | Peak calling Nucleic acid sequence feature detection | Pedro Madrigal |
DNAzip | A series of techniques that in combination reduces a single genome to a size small enough to be sent as an email attachment. | File reformatting | ||
DrFAST | Fast mapper for dibase encoded data. | |||
DSAP | Automated multiple-task web service designed to provide a total solution to analyzing deep-sequencing small RNA datasets generated by next-generation sequencing technology | Transcriptomics Regulatory RNA | ||
DSGseq | This program aims to identify differentially spliced genes from two groups of RNA-seq samples. | RNA-Seq Alternative splicing Gene expression | Statistical calculation Differential expression analysis RNA-Seq analysis | Xi Wang |
DSRC | Compression algorithm for genomic data in FASTQ format | File reformatting | ||
E-miR | Perl tools for processing miRNA sequencing data | Transcriptomics Regulatory RNA | ||
Ea-utils | FASTQ processing utilities | Sequencing quality control Sequence trimming | ||
EagleView | EagleView is an information-rich genome assembler viewer with data integration capability. | Sequence assembly visualisation | ||
EagleView genome viewer | EagleView is an information-rich genome assembler viewer with data integration capability. | Visualisation | ||
EaSeq | EaSeq is developed for user-friendly exploration, visualization and analysis of genome-wide single-read sequencing data (mainly ChIP-seq).
Both individual genomic loci and populations of loci can be visualized e.g. as plots of average signals, scatter diagrams, or clustered heatmaps. The underlying loci can then be inspected just by selecting them in the plots - or they can be 'gated out' for further analysis. EaSeq also integrates more than 20 tools for analysis, including peak-finding, quantitation, normalization, clustering, distance analysis, randomization, scoring, and normalization. Finally, it automatically generates legends and descriptions of the handling and can store plots together with underlying data and these descriptions as a single compact session file. | ChIP-Seq | Visualisation Peak calling Viewer Clustering Integrated solution Genome visualisation Analysis Biological interpretation Regression analysis Correlation Filtering Genomic region matching Format conversion Read summarisation Enrichment Global test Visualisation Quality assessement And more... | Lerdrup M Johansen JV Agrawal-Singh S Hansen KH |
Easyfig | Genome comparison figure generator | Comparative genomics | Comparative genomics | Mitchell J Sullivan |
EBCall | EBCall is a software package for somatic mutation detection (including InDels). EBCall uses not only paired tumor/normal sequence data of a target sample, but also multiple non-paired normal reference samples for evaluating distribution of sequencing errors, which leads to an accurate mutaiton detection even in case of low sequencing depths and low allele frequencies. | |||
ECHO | Reference-free short read error correction from diploid genomes, with explicit modeling of heterozygous sites. | SNP detection Indel detection | Sequence error correction | |
EDENA | An assembler dedicated to process the millions of very short reads produced by the Illumina Genome Analyzer. | Sequence assembly | ||
EdgeR | edgeR is an R/Bioconductor software package for statistical analysis of replicated count data. Methods are designed for assessing differential expression in comparative RNA-Seq experiments, but are generally applicable to count data from other genome-scale platforms (ChIP-seq, MeDIP-Seq, Tag-Seq, SAGE-Seq etc). | DNA methylation ChIP-seq RNA-Seq RNA-Seq quantification Gene expression analysis | Statistical calculation | Robinson MD Smyth GK McCarthy DJ |
ELAND | Efficient Large-Scale Alignment of Nucleotide Databases. Whole genome alignments to a reference genome. Written by Illumina author Anthony J. Cox for the Solexa 1G machine. | Sequence alignment | ||
EMBF | Frequency-based, de novo short-read clustering method that organizes erroneous short sequences originating in a single abundant sequence into a tree structure; in this structure, each “child” sequence is considered to be stochastically derived from its more abundant “parent” sequence with one mutation through sequencing errors. | Mapping | ||
Epigenome | A bioinformatic pipeline that scores epigenetic alterations according to strength and significance and links them to potentially affected genes. | Epigenomics | Bisulfite mapping | |
EpiGRAPH | EpiGRAPH enables biologists to analyze genome and epigenome datasets with powerful statistical and machine learning methods. In a typical workflow, the user uploads a set of genomic regions of interest (e.g. experimentally mapped enhancers, hotspots of epigenetic regulation or sites exhibiting disease-specific alterations), and EpiGRAPH searches a large database of (epi-) genomic attributes for significant overlap and correlation with the regions in the input dataset. Furthermore, EpiGRAPH can predict the status of genomic regions that were not included in the input dataset. | Epigenomics Machine learning | Statistical calculation | |
ERANGE | ERANGE is a Python package for doing RNA-seq and ChIP-seq. | ChIP-seq RNA-Seq alignment RNA-Seq quantification DNA transcription | ||
ERDS | ERDS is a free, open-source software, designed for detection of copy number variants (CNVs) on human genomes from next generation sequence data. It uses paired Hidden Markov models (PHMM) based on the expected distribution of read depth of short reads and the presence of heterozygous sites. ERDS is NOT good for whole exome data. | Copy number estimation | ||
ERGO Genome Analysis and Discovery System | ERGO provides a systems-biology informatics toolkit centered on comparative genomics to capture, query and visualize sequenced genomes. Building upon the most comprehensive genomic database available anywhere integrated with the largest collection of microbial metabolic and non-metabolic pathways and using Igenbio's proprietary algorithms, ERGO assigns functions to genes, integrates genes into pathways, and identifies previously unknown or mischaracterized genes, cryptic pathways and gene products. | Transcriptomics Metagenomics Transcription factors and regulatory sites Phylogenetics Comparative genomics SNP Functional genomics Gene structure Exome analysis Genome Wide Association Studies Metabolic pathways | Sequence alignment SNP detection SNP annotation Gene expression analysis Pathway or network analysis Sequence annotation Sequence functional annotation Metabolic network modelling | |
ERNE | Extended Randomized Numerical alignEr for accurate alignment of NGS reads. It can map bisulfite-treated reads. | Sequence alignment Genomics DNA methylation Sequencing Epigenetics | Read mapping Bisulfite mapping | Prezza N Del Fabbro C Vezzi F De Paoli M Policriti A |
Error Correction Evaluation Toolkit | Evaluation of error correction results | Data handling | Sequencing quality control | |
Est2assembly | Processes raw sequence data from Sanger or 454 sequencing into a hybrid de-novo assembly, annotates it and produces GMOD compatible output, including a SeqFeature database suitable for GBrowse. | Genomics RNA-Seq alignment | Sequence assembly | |
ESTcalc | Estimation of project costs for RNA-Seq study. | RNA-Seq | ||
EULER | EULER-SR is a program for de novo assembly of reads. Contrary to the overlap-layout approach, EULER-SR uses a de Bruijn graph to construct an assembly. The assembly of a genome corresponds to an Eulerian path in the de Bruijn graph. Long (possibly erroneous) reads, and mate-pairs are used to determine parts of the correct Eulerian traversal in the assembly. | Sequence assembly Sequence assembly (de-novo assembly) | ||
ExomeCNV | Identifies copy number variation from targeted exome sequencing data | Exome capture Copy number estimation | ||
ExomeCopy | CNV detection from exome sequencing read depth | Copy number estimation Exome and whole genome variant detection Exome analysis | Love MI | |
ExomePicks | ExomePicks is a program that suggests individuals to be sequenced in a large pedigree. | |||
Exonerate | Various forms of alignment (including Smith-Waterman-Gotoh) of DNA/protein against a reference. Authors are Guy St C Slater and Ewan Birney from EMBL. C for POSIX. | Sequence alignment | Ewan Birney Guy St C Slater | |
FAAST | Flowspace Assisted Alignment Search Tool | Read mapping | ||
FaBox | Tools for splitting, joining and otherwise manipulating FASTA format sequence files. | Sequence assembly Phylogenetics | ||
FACS | Rapid and accurate classification of sequences as belonging or not belonging to a reference sequence. | Metagenomics | Henrik Stranneheim | |
Falcon | FALCON: experimental PacBio diploid assembler | Sequence assembly | Sequence assembly | J. Chin |
FAST: Fast Analysis of Sequences Toolbox | The FAST Analysis of Sequences Toolbox (FAST) is a set of Unix tools (for example fasgrep, fascut, fashead and fastr) for sequence bioinformatics modeled after the Unix textutils (such as grep, cut, head, tr, etc). | Genomics Sequence analysis | Sequence analysis Sequence parsing | Travis J. Lawrence Dana L. Carper Katherine C.H. Amrine Kyle Kauffman Claudia Canales and David H. Ardell |
FastQ Screen | FastQ Screen provides a simple way to screen a library of short reads against a set of reference libraries. Its most common use is as part of a QC pipeline to confirm that a library comes from the expected source, and to help identify any sources of contamination. | Genomics Transcriptomics | Read mapping Sequencing quality control | Simon Andrews |
FastQC | FastQC aims to provide a simple way to do some quality control checks on raw sequence data coming from high throughput sequencing pipelines. | Sequencing quality control | Andrews SR | |
FastQValidator | Checking that FastQ files are follows standards | Quality control | Sequencing quality control | |
FDM | Detects differential transcription in RNA-Seq data | RNA-Seq quantification | ||
FeatureCounts | featureCounts is a very efficient read quantifier. It can be used to summarize RNA-seq reads and gDNA-seq reads to a variety of genomic features such as genes, exons, promoters, gene bodies and genomic bins. It is included in the Bioconductor Rsubread package and also in the SourceForge Subread package. | Next Generation Sequencing | Read summarisation | Wei Shi and Yang Liao |
FHiTINGS | "FHiTINGS is designed for use in rapidly identifying, classifying, and parsing internal transcribed spacer (ITS) DNA sequences after a BLASTn search. This software is useful for fungal ecology studies using next generation sequencing (NGS)." | Metagenomics Comparative genomics | Sequence alignment | Karen C. Dannemiller Darryl Reeves Kyle Bibby Naomichi Yamamoto Jordan Peccia |
Figaro | Figaro is a software tool for identifying and removing the vector from raw DNA sequence data without prior knowledge of the vector sequence. | Sequencing | K-mer counting | White JR Roberts M Yorke JA Pop M |
Filter | Produces a filtered version of an sRNA dataset, controlled by several user-defined criteria, including sequence length, abundance, complexity, transfer and ribosomal RNA removal. | Workflows | Sequence contamination filtering | Stocks MB Mapleson D Moxon S |
FindPeaks 3.1 | Findpeaks was developed to perform analysis of ChIP-seq experiments. | ChIP-seq | Peak calling | Anthony Fejes |
FindPeaks 4.0 (Vancouver Short Read Package) | The Vancouver Short Read Analysis Package (VSRAP) contains the FindPeaks application for Chip-Seq and RNA-Seq analysis, as well as utilities for SNP finding, working with aligned sequence files and a nascent database for storing SNPs across multiple libraries. | Genomics SNP detection | Peak calling Formatting Sequence alignment analysis | Anthony Fejes |
FLASH | Identifies paired-end reads which overlap in the middle, converting them to single long reads | Sequence assembly Read pre-processing | ||
Flexbar | Flexible barcode and adapter processing for next-generation sequencing platforms | Genomics | Adapter removal Sequence trimming DNA barcoding Quality control Read pre-processing | |
Flower | Tool for reformatting SFF files into other formats or tab-delimited | |||
FlowSim | Tool for simulating errors in 454 sequencing data | Sequence error correction Modelling and simulation | ||
Flux | FluxCapacitor s a computer program to predict splice form abundancies from reads of an RNA-seq experiment. FluxSimulator can generate simulated data for testing RNA-seq pipelines | RNA-Seq | Modelling and simulation | |
Forge | De novo assembly using a combination of next-generation and Sanger reads | Sequence assembly (de novo assembly) Genomics | Sequence assembly | |
FragGeneScan | Application for finding (fragmented) genes in short reads | Genomics Metagenomics | ||
FrameDP | Sensitive peptide detection on noisy matured sequences. A self-training integrative pipeline for predicting CDS in transcripts which can adapt itself to different levels of sequence qualities. | RNA-Seq | ||
FreClu | a frequency-based, de novo short-read clustering method that organizes erroneous short sequences originating in a single abundant sequence into a tree structure; in this structure, each “child” sequence is considered to be stochastically derived from its more abundant “parent” sequence with one mutation through sequencing errors. The root node is the most frequently observed sequence that represents all erroneous reads in the entire tree, allowing the alignment of the reliable representative read to the genome without the risk of mapping erroneous reads to false-positive positions. | RNA-Seq alignment | Read mapping | |
Freebayes | Bayesian genetic variant detector (SNPs, indels, MNPs) | Genomics | Erik Garrison | |
FREEC | A tool for control-free copy number alteration (CNA) detection using deep-sequencing data, particularly useful for cancer studies. | Copy number estimation | ||
FusionAnalyser | FusionAnalyser is a new graphical, event-driven tool dedicated to the identification of driver fusion rearrangements in human cancer through the analysis of paired-end high-throughput transcriptome sequencing data. Tested on Illumina. Requires short, paired-end sequences. | Gene structure High-throughput sequencing | Piazza R | |
FusionCatcher | FusionCatcher searches for novel/known somatic fusion genes, translocations, and chimeras in RNA-seq data (paired-end or single-end reads from Illumina NGS platforms like Solexa/HiSeq/NextSeq/MiSeq) from diseased samples). | RNA-Seq Gene structure | Sequence alignment | Daniel N |
FusionHunter | Identifies gene fusions in RNA-Seq data | RNA-Seq | Li Y Ma J | |
FusionMap | Detects fusion events in both single- and paired-end datasets from either RNA-Seq or gDNA-Seq studies and characterize fusion junctions at base-pair resolution. | Gene structure | Split-read mapping | Ge H Liu K Juan T Fang F Newman M Hoeck W |
FusionSeq | Identifies fusion transcripts from paired end RNA-Seq data. | RNA-Seq Gene structure | Sequence alignment analysis | Andrea Sboner Lukas Habegger |
Fuzzypath | Assembler | Genomics | Sequence assembly Sequence assembly (de-novo assembly) | |
G-Mo.R-Seq | G-Mo.R-Se is a method aimed at using RNA-Seq short reads to build de novo gene models. | RNA-Seq alignment | ||
G-SQZ | Huffman coding-based sequencing-reads specific representation scheme that compresses data without altering the relative order. | File reformatting | ||
Galaxy | "Galaxy is an open, web-based platform for data intensive biomedical research. Whether on the free public server or your own instance, you can perform, reproduce, and share complete analyses. " | Sequence assembly Whole genome resequencing Genomics Comparative genomics Functional genomics | Sequence assembly Sequence alignment Visualisation Sequencing quality control | |
Galign | Identifies polymorphisms between sequence reads obtained using Illumina/Solexa technology and a reference genome | SNP detection | Read mapping | |
Gambit | A cross-platform GUI for sequence visualization and analysis. | Visualisation | ||
GAMES | GAMES (Genomic Analysis of Mutations Extracted by Sequencing) is a tool for mining and prediction of functional effect of mutation. | SNP | SNP detection Indel detection SNP annotation | Sana ME Volinia S |
GASSST | Fast and accurate aligner for short an long reads | Sequence alignment Mapping | Guillaume Rizk and Dominique Lavenier | |
GASV | Software for classification and comparison of structural variants measured via paired-end sequencing and/or array-CGH. | Structural variation | ||
GATK | The Genome Analysis Toolkit (GATK) is a structured programming framework designed to enable rapid development of efficient and robust analysis tools for next-generation DNA sequencers. The GATK solves the data management challenge by separating data access patterns from analysis algorithms, using the functional programming philosophy of Map/Reduce | SNP detection | Localised reassembly Statistical calculation | Broad Institute |
GBrowse | Genome Viewer | Visualisation | ||
GeeFu | Database tool for genomic assembly and feature data | Genomics | Sequence assembly | |
GEM | GEM is a java software tool to analyze transcription factor binding ChIP-seq/ChIP-exo data. It predicts binding events, performs de novo motif discovery and use the motif to improve the binding event calling. It calls binding events right at (or very close to ) the motif positions, deconvolves closely spaced homotypic binding events and accurately discovers binding motifs. | ChIP-seq | Peak calling Sequence motif discovery | Yuchun Guo Shaun Mahony & David K Gifford |
GEM library | A set of very optimized tools for indexing/querying huge genomes/files. Provided so far: a very fast exact mapper, and an unconstrained split-mapper | Read mapping | ||
GENALICE MAP | From FASTQ to VCF in 30 min or less. Ultra-fast Next-Generation Sequencing (NGS) read alignment and variant calling solution. | Genomics | Read mapping Variant calling | |
GENE-Counter | GENE-counter is a computational pipeline for analyzing RNA-Sequencing (RNA-Seq) data for differential gene expression | RNA-Seq | Jason Cumbie | |
Genedata Expressionist | Genedata Expressionist performs efficient and quality compliant analysis of next generation sequencing (NGS) and other genomic profiling data | Genomics Transcriptomics DNA methylation ChIP-seq SNP detection Indel detection RNA-Seq Sequencing Laboratory information management Copy number estimation Epigenetics Gene structure | Read mapping Sequence alignment Annotation Bisulfite mapping Clustering Genome visualisation Sequencing quality control Sequence analysis Statistical calculation Gene expression analysis RNA-Seq analysis | Genedata AG |
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