Oct 29, 2014

Mobster: accurate detection of mobile element insertions in next generation sequencing data

Genome Biology
D T ThungJayne Y Hehir-Kwa

Abstract

Mobile elements are major drivers in changing genomic architecture and can cause disease. The detection of mobile elements is hindered due to the low mappability of their highly repetitive sequences. We have developed an algorithm, called Mobster, to detect non-reference mobile element insertions in next generation sequencing data from both whole genome and whole exome studies. Mobster uses discordant read pairs and clipped reads in combination with consensus sequences of known active mobile elements. Mobster has a low false discovery rateand high recall rate for both L1 and Alu elements. Mobster is available at http://sourceforge.net/projects/mobster.

Mentioned in this Paper

Repetitive Region
Genome
Genomics
Massively-Parallel Sequencing
Alu Elements
Consensus Sequence
Exome

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