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人类基因组测序在疾病预防和治疗中的应用

张力烨

农业生物技术学报2013,Vol.21Issue(1):1-11,11.
农业生物技术学报2013,Vol.21Issue(1):1-11,11.DOI:10.3969/j.issn.1674-7968.2013.01.001

人类基因组测序在疾病预防和治疗中的应用

Human Genome Sequencing in Disease Prevention and Treatment

张力烨1

作者信息

  • 1. 波士顿大学医学院,波士顿02118,美国
  • 折叠

摘要

Abstract

Due to significant advances in DNA sequencing technology,human genome sequencing is becoming a powerful tool in recent medical practice.The 1000 Genomes Project and ENCODE Project have provided a comprehensive variation and functional annotation of human genome,and such information will greatly benefit the medical application of sequencing in the long run.Nowadays,the sequencing approach is very successful in identifying the unknown mutation that leads to rare Mendelian diseases.In addition,sequencing cancer genomes comprehensively characterizes genome variations and leads to a better classification and more targeted treatment.The application of genome sequencing in common diseases and the bacteria/virus infection is still limited but promising.More importantly,the genome information not only facilitates the treatment of disease,but also provides guidance on disease prevention such as fetus genetic screening.The whole society still needs to overcome the challenges such as cost,high demand of computational power to process sequencing data and immature communication channel to take full advantage of sequencing in clinical setting.However,these issues are likely to be resolved by new technology,cloud computing solution and better education in the near future.This review focused on how recent applications of genome sequencing lead to better disease treatment and prevention.

关键词

基因组测序/疾病预防/疾病治疗

Key words

Genome sequencing/Disease prevention/Disease treatment

引用本文复制引用

张力烨..人类基因组测序在疾病预防和治疗中的应用[J].农业生物技术学报,2013,21(1):1-11,11.

农业生物技术学报

OA北大核心CSCDCSTPCD

1674-7968

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