Whole exome sequencing of reference gDNA for human genome variant assessment
Whole exome sequencing was performed at CDM center, TaKaRa Bio Inc. (Shiga, Japan). After fragmentation of reference standard gDNA (HD701) from Horizon Discovery (Cambridge, UK), the sheared DNA fragments were used to construct a library using SureSelect XT Human All Exon V5 and a SureSelect XT Reagent Kit (Agilent Technologies, Santa Clara, CA, USA). Next, target exons were enriched using SureSelectXT Automated Target Enrichment for Illumina Paired-End Multiplexed Sequencing (Agilent Technologies). After enriched exome libraries were multiplexed, the libraries were sequenced using a HiSeq 2500 sequencing platform (Illumina, San Diego, CA, USA) as paired-end 100 base reads.