Author

Vani Rajan

Illumina (United States)

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· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3

Frequent Co-Authors

Egor DolzhenkoiD· 3 shared Michael A. EberleiD· 3 shared Ryan J. TaftiD· 3 shared Aditi Chawla· 2 shared Bryan R. LajoieiD· 2 shared David Bentley· 2 shared Denise Perry· 2 shared Subramanian S. Ajay· 2 shared

Activity by Year

2017-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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3 shared papersGenomics

Egor DolzhenkoORCID

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3 papers

Recent·Most cited

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

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn M. Brown, Krista K. Bluske, Nicole C. Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, , Ryan J. Taft

This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.

Genetics in Medicine · Oct 3, 2018Peer-reviewedGenomics

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S. Ajay, Vani Rajan, Bryan R. Lajoie, Nathan Johnson, Zoya Kingsbury, Sean Humphray, Raymond D. Schellevis, William J. Brands, Matt C. Baker, , Michael A. Eberle

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.

Genome Research · Nov 1, 2017Peer-reviewedBioinformatics