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Benchmark and validation of whole exome sequencing of a trio and singleton

Whole exome paired-end sequencing data was obtained for a trio and a fourth unrelated individual sequenced to high depth (95x) using a paired-end library with the Illumina HiSeq platform and aligned by BWA 0.5.9. The bam files were analysed and experimentally vaidated for the novel insertion of mobile elements.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000883 Illumina HiSeq 2000 4
Publications Citations
Mobster: accurate detection of mobile element insertions in next generation sequencing data.
Genome Biol 15: 2014 488