Permits users to parse, analyze and manipulate VCF files. VCFtools is a software package for composed of two modules: the first is a general API that allows various operations to be performed on VCF files, including format validation, merging, comparing, intersecting, making complements and basic overall statistics; the second module analyze single-nucleotide polymorphism (SNP) data in VCF format, assisting researchers to estimate allele frequencies, levels of linkage disequilibrium and various quality control (QC) metrics.
Gives access to many free software tools for sequence analysis. EMBOSS aims to serve the molecular biology community. It permits the creation and the release of software in an open source spirit. This tool is useful for sequence analysis into a seamless whole. It is free of charge and is available in open source.
Builds mapping assemblies from short reads generated by the next-generation sequencing machines. Maq is particularly designed for Illumina-Solexa 1G Genetic Analyzer, and has preliminary functions to handle ABI SOLiD data. Maq first aligns reads to reference sequences and then calls the consensus. At the mapping stage, maq performs ungapped alignment. For single-end reads, maq is able to find all hits with up to 2 or 3 mismatches, depending on a command-line option; for paired-end reads, it always finds all paired hits with one of the two reads containing up to 1 mismatch. At the assembling stage, maq calls the consensus based on a statistical model.
Integrates workflow technology and in-built access to bioinformatics resources including remote data warehouses and tools. Galaxy permits users without programming skills to conduct computational analysis through the Web. It builds a succession of tools to perform multistep studies and is able to conserve the complete provenance of each analysis step. This platform offers drag and drop functionalities to ease the construction of workflows.
A software suite for the comparison, manipulation and annotation of genomic features in browser extensible data (BED) and general feature format (GFF) format. BEDTools also supports the comparison of sequence alignments in BAM format to both BED and GFF features. The tools are extremely efficient and allow the user to compare large datasets (e.g. next-generation sequencing data) with both public and custom genome annotation tracks. BEDTools can be combined with one another as well as with standard UNIX commands, thus facilitating routine genomics tasks as well as pipelines that can quickly answer intricate questions of large genomic datasets.
Improves the design and use of polymerase chain reaction (PCR)-based methylation assays. methPrimer was developed to store and retrieve validated methylation assays. This resource is intended to be a search portal for validated methylation assays. It also aims to establish a certain level of standardization and uniformity in the use of PCR based methylation assays. Each primer set is provided with a unique identifier to access them directly or refer to in a publication.
Manages base call (BCL) conversion to FASTQ and demultiplexing. BCL2FASTQ’s sample demultiplexer allows users to: generate statistics, regenerate analysis plots for each multiplexed sample, copy raw matrix, phase file and update sample sheet. Furthermore, this program includes features to mask multiple adapter sequences per read with a configurable stringency of the adapter and has standard Illumina adapter sequences.