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GATK / Genome Analysis ToolKit
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Focuses on variant discovery and genotyping. GATK provides a toolkit, developed at the Broad Institute, composed of several tools and ables to support projects of any size. The application compiles an assortment of command line allowing one to analyze of high-throughput sequencing (HTS) data in various formats such as SAM, BAM, CRAM or VCF. The website includes multiple documentation for guiding users.
SAMtools
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Allows users to interact with high-throughput sequencing data. SAMtools permits the manipulation of alignments in the SAM/BAM/CRAM formats: reading, writing, editing, indexing, viewing and converting SAM/BAM/CRAM format. It limits the mapping quality of reads with excessive mismatches and applies base alignment quality to fix alignment errors. This tool can sort and merge alignments, remove polymerase chain reaction (PCR) duplicates or generate per-position information.
BEDTools
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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.
Sambamba
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A high performance robust tool and library for working with SAM, BAM and CRAM sequence alignment files; the most common file formats for aligned next generation sequencing (NGS) data. Sambamba is a faster alternative to samtools that exploits multi-core processing and dramatically reduces processing time. Sambamba is being adopted at sequencing centers, not only because of its speed, but also because of additional functionality, including coverage analysis and powerful filtering capability.
VarAFT / Variant Annotation and Filter Tool
Annotates and filtrates variant files. VarAFT allows the comparison of several individuals and the collection of relevant information about the variations. It includes a coverage analysis module to easily visualize regions that are poorly covered though tables and dynamic charts. With VarAFT, users can annote variant (VCF) files, combine multiple samples from various individuals, prioritize list of variants by multi-filtering parameters. Additionnaly, users can perform a coverage analysis and quality check from any BAM file.
Octopus-toolkit
Examines epigenomic and transcriptomic next generation sequencing (NGS) data. Octopus-toolkit can be used for antibody- or enzyme-mediated experiments and studies for the quantification of gene expression. It can accelerate the data mining of public epigenomic and transcriptomic NGS data for basic biomedical research. This tool provides a private and a public mode: one to process the user’s own data, and the other to analyze public NGS data by retrieving raw files from the GEO database.
COV2HTML
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Allows coverage visualization and analysis of next-generation sequencing (NGS) alignments performed on prokaryotic organisms. COV2HTML consists of two different functions: MAP2COV calculates the genome coverage from heavy mapping file and extracts gene, rRNA, tRNA and ncRNA data from annotation files to generate light result file. The second one is a visualization tool that serves for the investigation for the coverage of genes or their promoter region according to DNA-, RNA-, ChIP-seq or TSS experiments.
BasePlayer
Enables tightly integrated comparative variant analysis and visualization of thousands of next generation sequencing (NGS) data samples and millions of variants. BasePlayer is a highly efficient and user-friendly software for biological discovery in large-scale NGS data. It transforms an ordinary desktop computer into a large-scale genomic research platform, enabling also a non-technical user to perform complex comparative variant analyses, population frequency filtering and genome level annotations under intuitive, scalable and highly-responsive user interface to facilitate everyday genetic research as well as the search of novel discoveries.
BpMatch
A statistical method to analyse genomic sequences. BpMatch computes the coverage of a source sequence S on a target sequence T, by taking into account direct and reverse segments, eventually overlapped. BpMatch can be used for all the same applications for which transformation distance (TD) is used, with the advantages of a strong reduction of computational time-space complexity and the ability to consider overlapped segments. BpMatch could strongly improve the results of such a phylogenetic investigation.
BadRegionFinder
Identifies regions with a bad, acceptable and good coverage in sequence alignment data available as bam files. BadRegionFinder offers various visual and textual types of output. The whole genome may be considered as well as a set of target regions. The tool can return detailed output files considering every base that is or should be covered and an overview file considering the coverage of the different genes that were targeted. The software may be used to determine user-definable, basewise quantiles over all samples at any position.
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