二代测序技术在植入前遗传学诊断中的应用
Application of next-generation sequencing in preimplantation genetic diagnosis.
二代测序技术在植入前遗传学诊断、筛查中的应用正在迅速发展，其不仅能进行胚胎染色体的全面筛查和诊断，还能检测单基因病。文章就二代测序技术在染色体病、单基因病的植入前
Abstract:The next-generation sequencing technology applied to preimplantation genetic diagnosis and screening is developing rapidly,which not only can perform extensive comprehensive chromosome screening/diagnosis,but also can analyze the single-gene disorders.This article reviews the application of the next-generation sequencing technology in the preimplantation genetic diagnosis of chromosomal disorders and single-gene disorders, and preimplantation genetic screening.
二代测序技术 / 植入前遗传学诊断 / 植入前遗传学筛查 / 染色体病 / 单基因病
next generation sequencing / PGD / PGS；chromosomal disorders / single-gene disorders
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（2015-12-28 收稿）
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