BGISEQ-500 paired end sequencing
The source DNA is a standard reference sample - NA12878, two replicated WES library was constructed and sequenced by BGISEQ-500 (2 x 100 bp). Since the Genome in a Bottle (GIAB) has released a high-confidence calls set of this sample, precision and sensitivity of WES application can then be estimated.
The qualified genomic DNA sample was randomly fragmented by Covaris technology and the size of the library fragments was mainly distributed around 350bp. The end repair of DNA fragments was performed and an A base was added at the 3'-end of each strand. Adapters were then ligated to both ends of the end repaired/dA tailed DNA fragments for amplification and sequencing. Size-selected DNA fragments were amplified by ligation-mediated PCR (LM-PCR ), purified, and hybridized to the exome array (Agilent SureSelect Human All Exon Kit V5) for enrichment. Non-hybridized fragments were then washed out.