Genomics

Dataset Information

0

Whole genome DNA sequencing for two long-lived humans.


ABSTRACT: Two long-lived human samples were sequenced to a mean 20x coverage genome wide. Sequencing was done using the Illumina hi-seq platform, alignment to GRCh37/hg19 reference genome was done using the BWA alignment tool.

PROVIDER: EGAS00001000877 | EGA |

REPOSITORIES: EGA

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Publications

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

Thung Djie Tjwan DT   de Ligt Joep J   Vissers Lisenka E M LE   Steehouwer Marloes M   Kroon Mark M   de Vries Petra P   Slagboom Eline P EP   Ye Kai K   Veltman Joris A JA   Hehir-Kwa Jayne Y JY  

Genome biology 20140101 10


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 ele  ...[more]

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