Author

Stephen K. Chow

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 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Pui–Yan KwokiD· 3 shared Curtis R. CoughliniD· 2 shared Elizabeth A. Geiger· 2 shared Feyza YilmaziD· 2 shared Tamim H. ShaikhiD· 2 shared Yulia MostovoyiD· 2 shared Andrew G. SharoiD· 1 shared Ann SwilleniD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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3 shared papersGenomics

Pui–Yan KwokORCID

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Author profile →

3 papers

Recent·Most cited

Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders

Joseph T.C. Shieh, Monica Penon‐Portmann, Karen H. Y. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Michele Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah T. Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, , Dario Boffelli

This study evaluates the Full Genome Analysis method for diagnosing rare monogenic disorders, finding a 40% diagnostic yield in clinical cases.

npj Genomic Medicine · Sep 23, 2021Peer-reviewedGenetic & Genomic Medicine

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

The 22q11 low copy repeats are characterized by unprecedented size and structure variability

Wolfram Demaerel, Yulia Mostovoy, Feyza Yilmaz, Lisanne Vervoort, Steven J. Pastor, Matthew S. Hestand, Ann Swillen, Elfi Vergaelen, Elizabeth A. Geiger, Curtis R. Coughlin, Stephen K. Chow, Donna M. McDonald‐McGinn, Bernice E. Morrow, Pui–Yan Kwok, Ming Xiao, , Joris Robert Vermeesch

The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.

Genome Research · Sep 1, 2019Peer-reviewedGenomics