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Updated: Jan 10, 2026

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
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星座照亮了罕见疾病的遗传学

Siyuan Cheng1, Qing Zhang2, Xinchang Zheng1

  • 1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.

medRxiv : the preprint server for health sciences
|November 24, 2025
PubMed
概括

Illumina 的 Constellation 测序技术通过实现远程变体检测和分阶段来改善罕见疾病诊断. 这种可扩展,具有成本效益的方法可以解决复杂的结构变异,并有助于识别致病性遗传突变.

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