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.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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 paired-end exome sequencing of a trio and singleton.	Illumina HiSeq 2000	4

Publications	Citations
Mobster: accurate detection of mobile element insertions in next generation sequencing data. Thung DT, de Ligt J, Vissers LE, Steehouwer M, Kroon M, de Vries P, Slagboom EP, Ye K, Veltman JA, Hehir-Kwa JY. Genome Biol 15: 2014 488	57