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IGV / Integrative Genomics Viewer
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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.
Performs alignments to fusion and non-fusion gene constructs simultaneously. FuSpot locally aligns and maps reads against fusion reference sequences to allow users to visualize and pinpoint fusion breakpoint evidence. The software enables researchers to critically inspect candidate fusion breakpoints derived from ribonucleic acid (RNA) fusion detector tools. It permits the identification and elimination of obvious false positives and to systematically select candidates for downstream validation. Besides, it can facilitate gene fusion studies that can lead to more targeted cancer therapies.
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