关键词: 芯片分析技术, 微阵列分析, 生殖技术, 辅助, 高通量测序, 植入前遗传学诊断

Abstract: Gene chips and deep sequencing，as two most important high-throughput genomics technologies，have been widely used in many areas of biomedical research，including functional genomics，systems biology，pharmacogenomics and diagnostics. With the advent of modified whole genome amplification technologies，it has been promoted to apply the high-throughput technologies in preimplantation genetic diagnosis（PGD）. Based on the microarray technology, two technologies, the whole chromosomes set screening and the PGD with chromosomal structural analysis, have been introduced into clinical practice. The clinical pregnancy and embryo implantation rate after preimplantation genetic screening（PGS） or PGD have been significantly improved. Furthermore，two new technologies based on the single cell high-throughput sequencing, the chromosomal aneuploidy detecting and the single gene disease PGD，have been reported. It is hopeful that these new technologies be applied to the clinic in the near future.

Key words: Microchip analytical procedures, Microarray analysis, Reproductive techniques, assisted, High-throughput sequencing, Preimplantation genetic diagnosis