Author

Revathi Rajkumar

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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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:polygenic risk· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aditi Chawla· 2 shared Akanchha KesariiD· 2 shared Alison J. CoffeyiD· 2 shared Alka MalhotraiD· 2 shared Becky Milewski· 2 shared Julie P. TayloriD· 2 shared Katie L. Golden‐Grant· 2 shared Ada HamoshiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Aditi Chawla

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Author profile →

2 papers

Recent·Most cited

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista K. Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, , Alison J. Coffey

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

Genetics in Medicine Open · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine

Development of a comprehensive genome-wide cardiovascular disease genetic risk assessment test

Laura M. Amendola, Alison J. Coffey, Josh Lowry, James Avecilla, Alka Malhotra, Aditi Chawla, Stetson Thacker, Julie P. Taylor, Revathi Rajkumar, Carolyn M. Brown, Katie L. Golden‐Grant, Rueben Hejja, Jennifer A. Lee, Phillip Medrano, Becky Milewski, , Ryan J. Taft

This paper develops a genome-wide cardiovascular disease genetic risk assessment test that includes monogenic conditions, risk alleles, pharmacogenomic variants, and polygenic risk scores, showing high performance and scalability.

medRxiv · May 6, 2024 · PreprintGenetic & Genomic Medicine