遗传多重症和结直肠癌的长期DNA和RNA测序:神秘的内部变异和多个突变机制

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Angela L Jacobson1, Amal AbuRayyan2, Suleyman Gulsuner2

  • 1Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.

Journal of medical genetics
|June 26, 2025
PubMed
概括

长读测序确定了所有四名患者结肠癌基因中的神秘内在变异. 这种先进的方法通过检测拼接变化来改善遗传多重症和结直肠癌的遗传诊断.

关键词:
遗传学 是一个遗传学.基因组学就是基因组学.突变突变是一种突变.纳米孔测序的测序方法序列删除 序列删除

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