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利用全基因组连锁不平衡信息对双胎合子性进行无创检测。

Noninvasive detection of twin zygosity using genome-wide linkage disequilibrium information.

作者信息

Kong Lingrong, Yang Yingjun, Yuan Chao, Wei Xing, Zhou Xinyao, Zhou Jia, Xing Ya, Zou Gang, Sun Qianqian, Cai Luyao, Liang Qiufeng, Zhang Yao, Wang Hongkun, Liu Zesi, Wu Di, Sun Luming

机构信息

Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.

Research and Development Department, Celula (China) Medical Technology Co., Ltd., Chengdu, China.

出版信息

Clin Transl Med. 2024 Dec;14(12):e70130. doi: 10.1002/ctm2.70130.

Abstract

Dear Editor, in this study, we propose a novel linkage disequilibrium information-based noninvasive zygosity (LDNZ) assessment method in twin pregnancies. It combines fetus-specific allele frequency analysis with LD block to reduce the number of required single nucleotide polymorphism markers and experiment costs. LDNZ method offers a noninvasive, accurate, and cost-effective solution for zygosity assessment, addressing the need for precise obstetric care in twin pregnancies.

摘要

尊敬的编辑,在本研究中,我们提出了一种基于连锁不平衡信息的双胎妊娠无创性合子型(LDNZ)评估方法。它将胎儿特异性等位基因频率分析与连锁不平衡区域相结合,以减少所需的单核苷酸多态性标记数量和实验成本。LDNZ方法为合子型评估提供了一种无创、准确且经济高效的解决方案,满足了双胎妊娠精确产科护理的需求。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6832/11659192/659bc2647ca1/CTM2-14-e70130-g002.jpg

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