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Updated: May 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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通过基因组测序在怀疑罕见疾病的个体中确定多个分子诊断

Alka Malhotra1, Erin Thorpe2, Alison J Coffey1

  • 1Illumina Inc., San Diego, CA, USA.

HGG advances
|April 8, 2025
PubMed
概括

基因组测序在9%的个体中确定了多重分子诊断 (MMD). 这些MMD,包括可采取行动的二次发现,可能会被其他遗传测试遗漏.

关键词:
在WGS中,使用的是WGS.这是一个偶然的发现.多个分子诊断多个分子诊断.罕见疾病是一种罕见的疾病.二次性发现发现.

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