Author

Shu Wen

Baylor College of MedicineORCID 0000-0002-7409-5255Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexander Fedotov· 1 shared Ali G. GharaviiD· 1 shared Anna MatyniaiD· 1 shared Christine M. EngiD· 1 shared Daniel J. SchaidiD· 1 shared David CarrelliD· 1 shared David R. CrossliniD· 1 shared David R. MurdockiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenomics

Alexander Fedotov

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Systematic assessment of the contribution of structural variants to inherited retinal diseases

Shu Wen, Meng Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi, Mark Edward Pennesi, Paul G Yang, Molly H. Marra, Robert Karel Koenekoop, Irma López, Anna Matynia, Michael B. Gorin, Ruifang Sui, Fengxia Yao, , Rui Chen

This study identifies 16 pathogenic structural variants in 16 IRD families using whole-genome sequencing, finding SVs contribute 2.1% to unresolved IRD cases but less than SNVs and indels.

Human Molecular Genetics · Feb 22, 2023Peer-reviewedGenetics

Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

Theodore Chiang, Xiuping Liu, Tsung-Jung Wu, Jianhong Hu, Fritz Joachim Sedlazeck, Simon J. White, Daniel J. Schaid, Mariza de Andrade, Gail Pairitz Jarvik, David R. Crosslin, Ian B. Stanaway, David Carrell, John J. Connolly, Hakon H. Hakonarson, Emily Groopman, , Richard A. Gibbs

Atlas-CNV identifies single-exon CNVs in targeted sequencing data with reduced false discovery rate using C-scores and ExonQC thresholds.

Genetics in Medicine · Mar 19, 2019Peer-reviewedGenomics