Author

Shanshan Gu

BGI Genomics

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:variant calling· 3 Assay:long-read sequencing· 2 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jiale XiangiD· 3 shared Xiangzhong Sun· 3 shared Shiping CheniD· 2 shared Yaya GuoiD· 2 shared Baosheng ZhuiD· 1 shared Guoming Chu· 1 shared H. J. YangiD· 1 shared Haiyan XuiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 34 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Jiale XiangORCID

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3 papers

Recent·Most cited

The comprehensive detection of hemoglobinopathy variants via long-read sequencing

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

High-Resolution Variant Profiling of CAH-Associated Genes Using a Long-Read Sequencing Assay

Shanshan Gu, Guoming Chu, Ruining Cai, Xiangzhong Sun, Qiutian Lu, Wanqing Han, Senwen Deng, Xiaohua Wang, Jiale Xiang, Rong Xing He

NanoCAH, a long-read sequencing assay, accurately detects all known variants and resolves haplotypes in CAH-associated genes, outperforming conventional methods.

medRxiv · Oct 24, 2025 · PreprintGenetic & Genomic Medicine

High-resolution mapping of DMD duplications using long-read sequencing enables precise carrier screening for Duchenne muscular dystrophy

H. J. Yang, Yanling Dong, Zhigang Wang, Xin-Yao Sun, Nana Song, Shanshan Gu, Xue Zhang, Yaya Guo, Xiangzhong Sun, Shiping Chen, Jian Wang, Jiale Xiang

This study uses long-read sequencing to precisely map DMD duplications, improving carrier screening and variant classification for Duchenne muscular dystrophy.

medRxiv · Aug 11, 2025 · PreprintGenetic & Genomic Medicine