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Updated: Jul 4, 2025

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开发一个编码SNP面板,用于追踪全外因子测序样本的起源

Yong Huang1,2, Yuanyuan Xiao3, Shengqiu Qu3

  • 1West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.

BMC genomics
|February 5, 2024
PubMed
概括

一个由22个编码单核酸多态 (cSNP) 位点组成的新多重组面板可以在整个外因子测序 (WES) 期间有效跟踪样本. 该工具增强了诊断遗传疾病和罕见疾病的质量控制.

关键词:
编码单核酸多形态的编码.亲属关系测试的测试个人身份证明 个人身份证明样本跟踪跟踪 样本跟踪整体外基因组测序的测序

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