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ABSTRACT: Background
Structural variations in human genomes, such as insertions, deletion, or rearrangements, play an important role in cancer development. Next-Generation Sequencing technologies have been central in providing ways to detect such variations. Most existing methods however are limited to the analysis of a single genome, and it is only recently that the comparison of closely related genomes has been considered. In particular, a few recent works considered the analysis of data sets obtained by sequencing both tumor and healthy tissues of the same cancer patient. In that context, the goal is to detect variations that are specific to exactly one of the genomes, for example to differentiate between patient-specific and tumor-specific variations. This is a difficult task, especially
SUBMITTER: Wittler R
PROVIDER: S-EPMC3283309 | biostudies-literature | 2011 Oct
REPOSITORIES: biostudies-literature