Tangram: a comprehensive toolbox for mobile element insertion detection.

ABSTRACT:

Background

Mobile elements (MEs) constitute greater than 50% of the human genome as a result of repeated insertion events during human genome evolution. Although most of these elements are now fixed in the population, some MEs, including ALU, L1, SVA and HERV-K elements, are still actively duplicating. Mobile element insertions (MEIs) have been associated with human genetic disorders, including Crohn's disease, hemophilia, and various types of cancer, motivating the need for accurate MEI detection methods. To comprehensively identify and accurately characterize these variants in whole genome next-generation sequencing (NGS) data, a computationally efficient detection and genotyping method is required. Current computational tools are unable to call MEI polymorphisms with sufficientl

SUBMITTER: Wu J 

PROVIDER: S-EPMC4180832 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature