Author

Yanqun Le

BGI Group (China)

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

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Junwei SuniD· 2 shared Zhiyu PengiD· 2 shared Chao CheniD· 1 shared Chaonan ShiiD· 1 shared Chunna Fan· 1 shared Fengxia LiuiD· 1 shared Haining LuoiD· 1 shared Hongyun ZhangiD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenomics

Junwei SunORCID

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2 papers

Recent·Most cited

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

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

Pre-implantation genetic diagnosis for a family with Usher syndrome through targeted sequencing and haplotype analysis

Haining Luo, Chao Chen, Yun Yang, Yuan Yuan, Wanyang Wang, Renhua Wu, Yinfeng Zhang, Zhiyu Peng, Ying Han, Lu Jiang, Ruqiang Yao, Xiaoying An, Weiwei Zhang, Yanqun Le, Jiale Xiang, , Junwei Sun

This paper applies targeted sequencing and haplotype analysis to develop a PGD assay for Usher syndrome, resulting in a successful pregnancy with a healthy baby.

bioRxiv · Nov 5, 2018 · PreprintGenetics