Proband-independent haplotyping based on NGS-based long-read sequencing for detecting pathogenic variant carrier status in preimplantation genetic testing for monogenic diseases

Authors: Peiyu Zhang, Xiaomei Zhao, Qinshan Li, Yaqiong Xu, Zengmei Cheng, Lu Yang, Houmei Wang, Yang Tao, Guanyou Huang, Rui Wu, Hua Zhou, Shuyun Zhao

Source: Frontiers in Molecular Biosciences, Vol 11 (2024)

Subject Terms: monogenic genetic disease, proband-independent haplotyping based on long-read sequencing, preimplantation genetic testing for monogenic, incomplete families, de novo pathogenic variant, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2024.1329580/full; https://doaj.org/toc/2296-889X

Access URL: https://doaj.org/article/d7d3a6b676394c4f8eadd8cd6ad0d84e

HDAC6-dependent deacetylation of NGF dictates its ubiquitination and maintains primordial follicle dormancy.

Authors: Tuo Zhang, Yuntong Tong, Rengguang Zhu, Yaoyun Liang, Jixian Zhang, Chujiao Hu, Meina He, Zhu Hu, Zhiyi Shen, Jin Niu, Jingjing Zhang, Yuanyuan Yu, Bangming Jin, Shan Lei, Zhirui Zeng, Yingmin Wu, Zengmei Cheng, Ziwen Xiao, Bing Guo, Shuyun Zhao

Source: Theranostics; 2024, Vol. 14 Issue 6, p2345-2366, 22p