Author

Andrey N. Smirnov

Broad InstituteORCID 0000-0002-4450-0408Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared David I. Benjamin· 1 shared Eric BanksiD· 1 shared Harrison BrandiD· 1 shared Isaac Wong· 1 shared Jack M. FuiD· 1 shared Konrad J. KarczewskiiD· 1 shared Laura Doyle Gauthier· 1 shared

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2022-2022 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Alba Sanchis‐JuanORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintAug 25, 2022

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…·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.

12 citations

humanwhole-exome sequencing

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