Whole exome sequencing of reference gDNA for human genome variant assessment

Whole exome sequencing was performed at Illumina Inc. (Tokyo, Japan). After fragmentation of reference standard gDNA (HD701) from Horizon Discovery (Cambridge, UK), exome enrichment was using TruSeq Exome Enrichment Kit (Illumina). After enriched exome libraries were multiplexed, the libraries were sequenced using NextSeq 500 sequencing platform (Illumina) according to manufacture's instruction. Next, the FASTQ Toolkit App in BaseSpace Sequence Hub designed by Illumina, Inc. was used to filter the data for quality and read length. Alignment to reference sequences and variant identification were performed with the Enrichment App (Illumina).