Tool Library list page for genomics topic with tag 'Pathology'



2 tools

Integrated structural variant prediction method that can discover, genotype and visualize deletions, tandem duplications, inversions and translocations at single-nucleotide resolution in short-read massively parallel sequencing data. It uses paired-ends and split-reads to sensitively and accurately delineate genomic rearrangements throughout the genome. Structural variants can be visualized using

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Stand-alone Java application as well as a Java library designed to be used in larger software frameworks for exome analysis.

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