随着人类基因组计划的完成和DNA测序技术的快速进步,测序成本大幅降低,速度越来越快。因而,近几年测序技术被广泛地应用于生命科学研究和疾病与健康的检测。现就对新一代测序技术及其在罕见病致病基因研究中的策略及应用进行综述。 With the completion of the Human Genome Project and the rapid progress of DNA sequencing technology, sequencing costs have been substantially reduced and are getting faster and faster. Therefore, in recent years, sequencing technology is widely used in life science research and disease and health testing. Now on the next generation sequencing technology and its pathogenesis in rare disease strategies and applications are reviewed.