Author

Catherine Chu

University of California, San Francisco

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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Genomics· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Assay:scRNA-seq· 1

Frequent Co-Authors

Chin Jia LiniD· 2 shared Pui–Yan KwokiD· 2 shared Alden King-Yung LeungiD· 1 shared Alexis J. CombesiD· 1 shared Angel C. Y. MakiD· 1 shared Annie Poon· 1 shared Annie W. Poon· 1 shared Armita Norouzi· 1 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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2 shared papersGenomics

Chin Jia LinORCID

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Author profile →

3 papers

Recent·Most cited

Single-cell RNA sequencing of peripheral blood defines two immunological subtypes of Sjögren's disease

G. Urbanski, Kimberly E. Taylor, Emily Flynn, Armita Norouzi, Catherine Chu, Brittany R. Davidson, Arnab Ghosh, Joanne Nititham, Ravi K. Patel, Annie W. Poon, Gabriela K. Fragiadakis, Alexis J. Combes, Walter L. Eckalbar, Lindsey A. Criswell, Chun Ye, Caroline H. Shiboski

The paper identifies two immunological subtypes of Sjögren's disease using single-cell RNA sequencing, highlighting distinct IFN-I signatures and transitional B cell characteristics.

bioRxiv · Feb 27, 2025 · PreprintGenomics

Genome mapping resolves structural variation within segmental duplications associated with microdeletion/microduplication syndromes

Yulia Mostovoy, Feyza Yilmaz, Stephen K. Chow, Catherine Chu, Chin Jia Lin, Elizabeth A. Geiger, Naomi J. L. Meeks, Kathryn C. Chatfield, Curtis R. Coughlin, Pui–Yan Kwok, Tamim H. Shaikh

The paper presents a high-throughput optical mapping technique to genotype structural variation in segmental duplications, identifying novel variants and refining breakpoints in microdeletion syndromes across diverse populations.

bioRxiv · Apr 30, 2020 · PreprintGenomics

OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps

Le Li, Alden King-Yung Leung, Tsz-Piu Kwok, Yvonne Y. Y. Lai, Iris K. Pang, Grace Tin‐Yun Chung, Angel C. Y. Mak, Annie Poon, Catherine Chu, Menglu Li, Jacob J. K. Wu, Ernest T. Lam, Han Cao, Chin Jia Lin, Justin G. Sibert, , Kevin Yuk-Lap Yip

OMSV identifies large structural variations from optical maps with high accuracy, outperforming existing methods and detecting many missed by sequencing.

Genome biology · Dec 1, 2017Peer-reviewedBioinformatics