Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery.

ABSTRACT:

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Recent years have witnessed an increase in research activity for the detection of structural variants (SVs) and their association to human disease. The advent of next-generation sequencing technologies make it possible to extend the scope of structural variation studies to a point previously unimaginable as exemplified by the 1000 Genomes Project. Although various computational methods have been described for the detection of SVs, no such algorithm is yet fully capable of discovering transposon insertions, a very important class of SVs to the study of human evolution and disease. In this article, we provide a complete and novel formulation to discover both loci and classes of transposons inserted into genomes sequenced with high-throughput sequencing technologies. In add

SUBMITTER: Hormozdiari F 

PROVIDER: S-EPMC2881400 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature