Nanopore sequencing with T2T‐CHM13 for accurate detection and preventing the transmission of structural rearrangements in highly repetitive heterochromatin regions in human embryos

Abstract Background Structural rearrangements in highly repetitive heterochromatin regions can result in miscarriage or foetal malformations; however, detecting and preventing the transmission of these rearrangements has been challenging. Recently, the completion of sequencing of the complete human...

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Main Authors: Qiuping Xia, Taoli Ding, Tianli Chang, Jiangxing Ruan, Ji Yang, Menglin Ma, Jiaqi Liu, Zhen Liu, Shujing Jiao, Jian Wu, Jun Ren, Sijia Lu, Yanping Li, Zhongyuan Yao
Format: Article
Language:English
Published: Wiley 2024-03-01
Series:Clinical and Translational Medicine
Subjects:
Online Access:https://doi.org/10.1002/ctm2.1612