How the human genome transformed study of rare diseases

被引：11

作者：

Alkuraya, Fowzan S. ^{[1
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh 11211, Saudi Arabia

来源：

NATURE | 2021年 / 590卷 / 7845期

关键词：

Genetics; Genomics; Medical research; History;

D O I：

10.1038/d41586-021-00294-7

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Mendelian diseases are caused by mutations in a single gene. The first draft of the human genome, published in 2001, had broad implications for how these diseases are diagnosed, managed and prevented. An improved understanding of Mendelian diseases over two decades.

引用

页码：218 / 219

页数：2

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