Author

Sushma Chaluvadi

Broad Institute

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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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anne O’Donnell‐LuriaiD· 2 shared Akiko ShimamuraiD· 1 shared Alessandro CulottiiD· 1 shared Alexander Baumann· 1 shared Alexander OstrovskyiD· 1 shared Alexandru MahmoudiD· 1 shared Alison G. ComptoniD· 1 shared Allie Hajian· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne O’Donnell‐LuriaORCID

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2 papers

Recent·Most cited

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Sarah L. Stenton, Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie P. DiTroia, Ikeoluwa Osei‐Owusu, Lynn S. Pais, Emily O’Heir, Christina Anne Austin-Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, , Anne O’Donnell‐Luria

The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.

Human Genetics and Genomics Advances · Apr 15, 2025Peer-reviewedGenetic & Genomic Medicine

Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL)

Michael C. Schatz, Anthony Philippakis, Enis Afgan, Eric Banks, Vincent J. Carey, Robert J. Carroll, Alessandro Culotti, Kyle Ellrott, Jeremy Goecks, Robert L. Grossman, Ira M. Hall, Kasper D. Hansen, Jonathan Lawson, Jeffrey T. Leek, Anne O’Donnell‐Luria, , Jason Walker

The paper describes AnVIL, a cloud-based platform that enables genomic data analysis without data transfer, improving security, scalability, and collaboration.

Cell Genomics · Jan 1, 2022Peer-reviewedBioinformatics