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Genome Biol. 2014;15(10):488.

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

Author information

1
Department of Human Genetics, RadboudUMC, P.O. Box 9101, 6500, HB, Nijmegen, the Netherlands.

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.

PMID:
25348035
PMCID:
PMC4228151
DOI:
10.1186/s13059-014-0488-x
[Indexed for MEDLINE]
Free PMC Article

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