This study evaluated the performance of BGISEQ-500 on WES by comparison with HiSeq 4000

Whole Exome Sequencing (WES) has been widely used in human genetics research. BGISEQ-500 is a recently established next-generation sequencing platform. The performance of BGISEQ-500 on WES is not well studied. In this study, we evaluated the performance of BGISEQ-500 on WES by comparison with Hiseq 4000, on well-characterized human sample NA12878