Harmonization of distributed multi‐center analysis based on dried blood spot reference materials supporting the screening of neonatal inherited metabolic disorders

por Qu, Shou‐Fang, Tao, Hao‐Ran, Qin, Liu‐Ji, Zhang, Wen‐Xin, Han, Shan, Zhang, Shen‐Yan, Huang, Jie
Publicado 2023

Detection of chromosomal abnormalities in spontaneous miscarriage by low-coverage next-generation sequencing

por Li, Fen-Xia, Xie, Mei-Juan, Qu, Shou-Fang, He, Dan, Wu, Long, Liang, Zhi-Kun, Wu, Ying-Song, Yang, Fang, Yang, Xue-Xi
Publicado 2020

Panel‐based targeted exome sequencing reveals novel candidate susceptibility loci for age‐related cataracts in Chinese Cohort

por Li, Jian-Kang, Li, Li‐Li, Li, Wei, Wang, Zi‐Wei, Gao, Feng‐Juan, Hu, Fang-Yuan, Zhang, Sheng‐Hai, Qu, Shou-Fang, Huang, Jie, Wang, Lu-Sheng, Wu, Ji-Hong, Chen, Fang
Publicado 2020

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy

por Li, Jian-Kang, Li, Wei, Gao, Feng-Juan, Qu, Shou-Fang, Hu, Fang-Yuan, Zhang, Sheng-Hai, Li, Li-Li, Wang, Zi-Wei, Qiu, Yong, Wang, Lu-Sheng, Huang, Jie, Wu, Ji-Hong, Chen, Fang
Publicado 2020

A Deep-Learning Pipeline for TSS Coverage Imputation From Shallow Cell-Free DNA Sequencing

por Han, Bo-Wei, Yang, Xu, Qu, Shou-Fang, Guo, Zhi-Wei, Huang, Li-Min, Li, Kun, Ouyang, Guo-Jun, Cai, Geng-Xi, Xiao, Wei-Wei, Weng, Rong-Tao, Xu, Shun, Huang, Jie, Yang, Xue-Xi, Wu, Ying-Song
Publicado 2021