This study identifies 13 novel genetic associations and confirms 17 existing ones between SNPs and neonatal metabolites using genome-wide association analysis of maternal low-pass genomes.

Cell Genomics · Oct 1, 2024Peer-reviewedGenetics

Unraveling the Molecular Landscape of Congenital Pseudoarthrosis of the Tibia: Insights from a Comprehensive Analysis of 162 Probands

Guanghui Zhu, Nan Li, Zheng Yu, Shunyao Wang, Ge Yang, Yaoxi Liu, Zongren Xu, Hui Huang, Huanhuan Peng, Haibo Mei

This study identifies rare LoF variations in key pathways associated with CPT, explaining ~39.6% of cases and highlighting genetic mechanisms underlying the disease.

medRxiv · Jun 28, 2023 · PreprintGenetic & Genomic Medicine

Systematic evaluation of the two main blood-based RNA-seq approaches for Mendelian disease diagnosis

Ziying Yang, Xiaoru Yang, Yunmei Chen, Zhonghua Wang, Lijie Song, Jun Sun, Huanhuan Peng, Xunzhe Yang, Zhiyu Peng, Yi Dai

This study evaluates two RNA-seq methods for Mendelian disease diagnosis using blood samples, finding polyA-selection outperforms rRNA depletion in detecting disease-related genes and variants.

medRxiv · Apr 22, 2023 · PreprintGenetic & Genomic Medicine

Genetic characteristics of human papillomavirus type 16, 18, 52 and 58 in southern China

Yuee Zu, Zhihua Ou, Dan Wu, Wei Liu, Liwen Liu, Di Wu, Yanping Zhao, Peidi Ren, Yanqing Zhang, Wangsheng Li, Shujin Fu, Yongchun Wen, Xianchu Cai, Wenbo Liao, Chunyu Geng, , Junhua Li

The paper analyzes the genetic diversity of HPV types 16, 18, 52, and 58 in southern China, identifying sublineages and mutations associated with oncogenic potential.

Genomics · Sep 20, 2021Peer-reviewedGenomics