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

Study ID Alternative Stable ID Type
EGAS00001000852 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Illumina HiSeq paired-end exome sequencing of a trio and singleton.
Illumina HiSeq 2000 4

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