Identification of causal mutation in two patients with Sotos Syndrome Features

ABSTRACT: 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).

PROVIDER: EGAS00001000993 | EGA |

REPOSITORIES: EGA