Author

Viraj Deshpande

Illumina (United States)Primary ORCID profile (0000-0002-4859-9409 · 3 papers)Unclaimed ORCID profile · follow to get notified of new preprints

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Viraj DeshpandeiD3 papers · University of California San Diego

Biology Disciplines

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Bioinformatics· 2 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Arianna TucciiD· 3 shared Egor DolzhenkoiD· 3 shared Kristina IbáñeziD· 3 shared Michael A. EberleiD· 3 shared Frances Lucy RaymondiD· 2 shared Joke J.F.A. van VugtiD· 2 shared Konrad ScheffleriD· 2 shared Ryan J. TaftiD· 2 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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3 shared papersBioinformatics

Arianna TucciORCID

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3 papers

Recent·Most cited

REViewer: Haplotype-resolved visualization of read alignments in and around tandem repeats

Egor Dolzhenko, Ben Weisburd, Kristina Ibáñez, Indhu‐Shree Rajan‐Babu, Christine Anyansi, Mark F. Bennett, Kimberley J. Billingsley, Ashley Carroll, Samuel E. Clamons, Matt Christopher Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, , Michael A. Eberle

REViewer visualizes sequencing data around long repeat expansions by reconstructing haplotypes and aligning reads, improving the assessment of repeat genotype calls and detecting interruptions.

Genome Medicine · Aug 10, 2022Peer-reviewedBioinformatics

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Kristina Ibáñez, James M. Polke, Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Thomas, Louise C. Daugherty, Dalia Kasperavičiūtė, Ellen M. McDonagh, Katherine R. Smith, Antonio Rueda Martin, Dimitris Polychronopoulos, Heather Angus‐Leppan, Kailash P. Bhatia, James E. Davison, , Arianna Tucci

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

bioRxiv · Nov 6, 2020 · PreprintGenomics

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

Egor Dolzhenko, Viraj Deshpande, Felix J. Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew M. Gross, Giuseppe Narzisi, Brett N. Bowman, Konrad Scheffler, Joke J.F.A. van Vugt, Courtney E. French, Alba Sanchis‐Juan, Kristina Ibáñez, , Michael A. Eberle

ExpansionHunter is a tool for accurately genotyping short tandem repeats, particularly in complex regions with adjacent variants or imperfect repeats.

Bioinformatics · May 23, 2019Peer-reviewedBioinformatics