Mate pair sequencing of genomic DNA samples from Phelan Mc-Dermid Syndrome (PMDS) patient PMDS1.
Mate pair sequencing was conducted to detect the genomic breakpoint around the Shank3 gene in PDMS patients. Genomic DNA samples isolated from 2 PDMS patients and 2 healthy individuals were used to construct meta-pair sequencing libraries using the Illumina Nextera Meta Pair Library Prep Kit according to the manufacturer’s instructions. Libraries were sequenced to 76x2 paired-end reads on an Illumina HiSeq2500. Reads mapping to Chromosome 22 around the Shank3 gene are selected.