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Identification of causal mutation in two patients with Sotos Syndrome Features

We performed whole exome sequencing (WES) on genomic DNA derived from two patients with Sotos Syndrome Features. Sequencing (100 base pair paired-end) was performed on an Illumina Hiseq 2000 sequencer after enrichment of 62Mb of exonic and adjacent intronic sequences with TruSeq Exome Enrichment Kit (Illumina, San Diego, CA, USA).

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Dataset ID Description Technology Samples
EGAD00001001033 Illumina HiSeq 2000 2