Author

Jianbiao Li

BGI Group (China)ORCID 0000-0002-8097-8150Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Jian GuoiD· 2 shared Jingyu YeiD· 2 shared Ying YangiD· 2 shared Zhenzhen YiniD· 2 shared Chuanfeng HuangiD· 1 shared Dongfang ZouiD· 1 shared Fang CheniD· 1 shared Fang CheniD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jian GuoORCID

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2 papers

Recent·Most cited

Clinical and molecular diagnostic study of 320 Chinese children with epilepsy by Genome Sequencing

Dongfang Zou, Lin Wang, Jianxiang Liao, Hongdou Xiao, Jing Duan, Tongda Zhang, Jianbiao Li, Zhenzhen Yin, Jing Zhou, Haisheng Yan, Yushan Huang, Nianji Zhan, Ying Yang, Jingyu Ye, Fang Chen, , Jian Guo

This study evaluates genome sequencing in 320 Chinese children with epilepsy, finding pathogenic variants in 38.13% and demonstrating its diagnostic and therapeutic value.

Brain · Jun 17, 2021Peer-reviewedGenetic & Genomic Medicine

Development of a Genomic DNA Reference Material Panel for Thalassemia Genetic Testing

Zhenzhen Yin, Shoufang Qu, Chuanfeng Huang, Fang Chen, Jianbiao Li, Shiping Chen, Jingyu Ye, Ying Yang, Yu Zheng, Xi Zhang, Xuexi Yang, Long-Xu Xie, Jitao Wei, Fengxiang Wei, Jian Guo, Jie Huang

The paper develops a national panel of 31 genomic DNA reference materials for thalassemia genetic testing, validated across multiple laboratories and stable under various conditions.

International Journal of Laboratory Hematology · Apr 16, 2020Peer-reviewedGenetics