Author
BGI Group (China)ORCID 0000-0002-3113-113XUnclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Jiale Xiang, Jiguang Peng, Xiangzhong Sun, Jiang Chen, Huiru Zhao, Yaya Guo, Haiyan Xu, Shanshan Gu, Haodong Ye, Long You, Xiaoyan Huang, Shiping Chen, Baosheng Zhu, Zhiyu Peng
This paper develops a long-read indexed PCR method using the CycloneSEQ nanopore platform to detect all hemoglobinopathy variants with 100% sensitivity and specificity.
Human Genomics · Aug 14, 2026Peer-reviewedGenomics
Jiguang Peng, Jiale Xiang, Xiangqian Jin, Junhua Meng, Nana Song, Lisha Chen, Ahmad N. Abou Tayoun, Zhiyu Peng
VIP-HL semi-automates ACMG/AMP variant interpretation for genetic hearing loss, achieving high concordance with expert panels and available as a web tool.
Human Mutation · Aug 24, 2021Peer-reviewedBioinformatics
Yan Sun, Fengxia Liu, Chunna Fan, Yaoshen Wang, Lijie Song, Zhonghai Fang, Rui Han, Zhonghua Wang, Xiaodan Wang, Ziying Yang, Zhenpeng Xu, Jiguang Peng, Chaonan Shi, Hongyun Zhang, Wei Dong, , Zhiyu Peng
This study evaluates the sensitivity and coverage of clinical whole-genome sequencing (WGS) for detecting genetic variants, finding that 40X mean depth achieves high sensitivity for SNVs and indels but not 100%.
BMC Medical Genomics · Apr 13, 2021Peer-reviewedGenomics
Jing Wang, Jiale Xiang, Lisha Chen, Hongyu Luo, Xiuhua Xu, Nan Li, Chunming Cui, Jing-Jing Xu, Nana Song, Jiguang Peng, Zhiyu Peng
This study uses a stepwise approach combining multiplex PCR and exome sequencing to diagnose 64% of non-syndromic hearing loss patients, identifying 59 molecular diagnoses from 92 unrelated cases.
Scientific Reports · Feb 17, 2021Peer-reviewedGenetic & Genomic Medicine
Jiale Xiang, Jiguang Peng, Samantha M. Baxter, Zhiyu Peng
AutoPVS1 is an automatic tool for PVS1 interpretation of null variants, achieving 95% concordance with manual curation and highlighting variant-specific issues and disease mechanisms.
Human Mutation · May 22, 2020Peer-reviewedGenetics