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评估纳米孔适应性采样测序在检测平衡转位的效率

Meng Gao1,2, Jun Ren1,2, Cuiting Peng1,2

  • 1Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Journal of medical genetics
|February 25, 2026
PubMed
概括

纳米孔适应性采样测序有效检测平衡转位 (BTs),为识别家族中的遗传风险提供了全基因组测序的经济有效替代方案. 这种方法改善了亚微观BT的检测,有助于遗传咨询.

关键词:
染色体异常是什么?染色体异常是什么纳米孔序列测序 纳米孔序列测序序列分析,DNA序列分析

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