Author

Xiaoyu Li

Second Affiliated Hospital of Zhejiang UniversityORCID 0000-0002-8907-6727Unclaimed ORCID profile · follow to get notified of new preprints

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Xiaoyu Li4 papers · Fudan University

Biology Disciplines

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Genetic & Genomic Medicine· 2 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1

Frequent Co-Authors

Xihao LiiD· 2 shared Xihong LiniD· 2 shared Yuxin YuaniD· 2 shared Zilin LiiD· 2 shared Andrew R. WoodiD· 1 shared Baoqun Chang· 1 shared Chang LuiD· 1 shared Chong Tong· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Xihao LiORCID

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3 papers

Recent·Most cited

Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomes

Yuxin Yuan, Yuanyuan Guan, Yannuo Feng, Tony Chen, Yingzi Zhang, Baoqun Chang, Shijie Fan, Chang Lu, Wenyuan Li, Xiaoyu Li, Xihao Li, Xihong Lin, Zilin Li

The paper maps rare coding and noncoding variants to 1,342 diseases and biomarkers using whole genome sequencing data from 490,549 UK Biobank participants.

medRxiv · Mar 26, 2026 · PreprintGenetic & Genomic Medicine

Nuclear speckle protein SON safeguards efficient splicing of GC-rich genes

Weiyi Fan, Yuenan Zhou, Xinyue Zhang, Chong Tong, Xiaoyu Li, Yafei Yin

This study identifies SON as a critical factor for splicing GC-rich genes, showing its role in stabilizing weak splice sites and enhancing gene expression efficiency.

bioRxiv · Mar 24, 2026 · PreprintMolecular Biology

Streamlining Large-Scale Genomic Data Management: Insights from the UK Biobank Whole-Genome Sequencing Data

Xihao Li, Andrew R. Wood, Yuxin Yuan, Manrui Zhang, Yushu Huang, Gareth Hawkes, Robin N. Beaumont, Michael N. Weedon, Xiaoyu Li, Xihong Lin, Zilin Li

The paper introduces vcf2agds, a toolkit converting WGS data to aGDS format, enabling efficient analysis of UK Biobank data and identifying 480 genome-wide significant associations for total cholesterol.

Cell Genomics · Sep 23, 2025Peer-reviewedGenetic & Genomic Medicine