摘要
全外显子基因检测技术作为众多分子遗传学检测技术之一,以其相对经济、高效、覆盖面广等特点广泛应用于疑似罕见病的儿童、成人及产前诊断等领域,特别在基因组学诊断和临床用药指导等方面发挥了重要的辅助作用。本文对全外显子检测技术的特点及局限性进行(综述),有助于临床精准诊疗。
As one of the many molecular genetic testing techniques,whole exome sequencing is widely used in the rare diseases in children,adults,and prenatal diagnosis,due to its relatively economical,efficient,and wide coverage.It has an important role in genomics diagnosis and clinical grug guidance,This article provides a review of the characteristics and limitations of whole exome sequencing,which is benificial in the clinical precision diagnosis and treatment.
作者
汤贤英(综述)
刘丽伟(审校)
Tang Xianying;Liu Liwei(Guiyang Maternal and Child Health Care Hospital,Guiyang 550003,Guizhou,China)
出处
《贵州医药》
2025年第9期1380-1384,共5页
基金
贵州省高层次创新型人才培养项目(筑科合同—GCC[2022]017)
2023年度贵州省卫生健康委科学技术基金项目(gzwkj 2023-288)。
