Author

Isaac Wong

Broad Institute

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Biology Disciplines

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Genomics· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Harrison BrandiD· 2 shared Jack M. FuiD· 2 shared Laura Doyle Gauthier· 2 shared Michael E. TalkowskiiD· 2 shared Ryan L. CollinsiD· 2 shared Alba Sanchis‐JuaniD· 1 shared Alicia BrandtiD· 1 shared Andrey N. SmirnoviD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenomics

Harrison BrandORCID

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2 papers

Recent·Most cited

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank

Mehrtash Babadi, Jack M. Fu, Samuel K. Lee, Andrey N. Smirnov, Laura Doyle Gauthier, Mark Walker, David I. Benjamin, Konrad J. Karczewski, Isaac Wong, Ryan L. Collins, Alba Sanchis‐Juan, Harrison Brand, Eric Banks, Michael E. Talkowski

GATK-gCNV detects rare copy number variants from exome sequencing data, achieving high recall in benchmarking and generating a reference catalog of rare coding CNVs in the UK Biobank.

bioRxiv · Aug 25, 2022 · PreprintGenomics

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Chelsea Lowther, Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin Currall, Kathryn O’Keefe, Emma Pierce‐Hoffman, Nehir Edibe Kurtas, Christopher W. Whelan, Stephanie P. Hao, Ben Weisburd, Vahid Jalili, Jack M. Fu, Isaac Wong, Ryan L. Collins, , Michael E. Talkowski

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

bioRxiv · Aug 12, 2020 · PreprintGenomics