Enables users to explore large, integrated genomic datasets. IGV provides next-generation sequencing (NGS) data visualization and provides features for identification of sequencing and analysis artifacts, leading to errant single-nucleotide variant (SNV) calls, as well as support for viewing large-scale structural variants (SV) detected by paired-end read technology. The software also includes features to support third-generation long-read sequencing technologies. Several IGV features have been developed to aid manual review of aligned reads.
A decision-support software and client server application that integrates genetic and genomic information from different sources into one consistent and convenient environment to describe variants using HGVS nomenclature and help interpret their pathogenic status.
Enables visualization and navigation of reference genomes and corresponding genomic data sets. Savant is a genome browser that supports a wide range of file formats, as well as the use of remote files and datasources. Navigation to genomic regions of interest is assisted through textual search and bookmarks. The software delivers creative visualization representations for high-throughput sequencing (HTS) data and a plugin architecture that provides the opportunity to incorporate any computational tool within a visual environment.
An interactive Java application for visualizing the large amounts of data stored for sequence reads which are aligned against a reference genome sequence. BamView supports the BAM (Binary Alignment/Map) format. It can be used in a number of contexts including SNP calling and structural annotation. BamView has also been integrated into Artemis so that the reads can be viewed in the context of the nucleotide sequence and genomic features.
Provides repeatable variant discovery and interpretation workflows for gene panels, whole exomes, and whole genomes. VarSeq is a filtering and annotation engine which allows to sift through large variant data sets. Users can determine the parameters and save them to apply their analysis to other datasets. The software offers several features such as clinical grade variant annotations, multiple sample support, tracking variants, visualization or coverage statistics.
Provides users structural variations (SVs) visualization capabilities, scalability and cloud data support. NGB consists of a web client-server tool that has been developed with several specific features such as: CRAM format support; integration with various data sources, including ENSEMBL, UniPROT and other internal/external databases; or the ability to use a web 3D molecular viewer.
Permits the exploration of patterns among tumor samples arranged relative to one another based on their molecular similarities. TumorMap consists of an analysis and visualization web portal that presents samples on the basis of their molecular profile similarity and attributes associated with samples, such as disease histological subtypes. Furthermore, this platform allows users to build their own interactive maps from several uploaded high-throughput platforms.