Time to make rare disease diagnosis accessible to all

被引：11
|
作者：
Rehm, Heidi L. [1 ,2 ]
机构：
[1] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA
[2] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
来源：
NATURE MEDICINE | 2022年 / 28卷 / 02期
关键词：
D O I：
10.1038/s41591-021-01657-3
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Studies have demonstrated the value of genomic analysis for the diagnosis of rare diseases, but accessibility is still in its infancy; global data sharing is needed to further advance our knowledge of all causes of rare disease.
引用
收藏
页码：241 / 242
页数：2
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