Time to make rare disease diagnosis accessible to all.

Time to make rare disease diagnosis accessible to all.
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DOI:
10.1038/s41591-021-01657-3
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发表时间:
2022-03
期刊:
影响因子:
82.9
通讯作者:
Rehm HL
Rehm HL
中科院分区:
医学1区
文献类型:
--
作者:
Rehm HL

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研究已经证明了基因组分析在罕见疾病诊断中的实用性,但可访问性仍处于起步阶段;需要全球数据共享以进一步推进我们对罕见疾病所有原因的了解。
Studies have demonstrated the utility of genomic analysis for rare disease diagnosis, yet accessibility is still in its infancy; global data sharing will be needed to further advance our knowledge of all causes of rare disease.
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