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通过实施使用外体序列测序的短串重复分析来进行诊断提升.

Jihoon G Yoon1, Seungbok Lee1,2, Jaeso Cho1,2

  • 1Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.

European journal of human genetics : EJHG
|February 2, 2024
PubMed
概括

将短串重复 (STR) 分析集成到外基因组测序中,可以显著改善神经遗传障碍的诊断. 这种方法发现了新的遗传条件,并扩大了对特定种群中重复扩张的理解.

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