Author

Marcela Mendoza

Scripps Research Institute

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ali TorkamaniiD· 1 shared Bence Kotis· 1 shared Carsten G. BönnemanniD· 1 shared David R. AdamsiD· 1 shared Eric Song· 1 shared Kaushik Ram GanapathyiD· 1 shared Martin BrolyiD· 1 shared Paul HoffmaniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ali TorkamaniORCID

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1 paper

Recent·Most cited

Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data

Kaushik Ram Ganapathy, Martin Broly, Sarah Silverstein, Marcela Mendoza, Eric Song, Bence Kotis, Paul Hoffman, Ali Torkamani, David R. Adams, Carsten G. Bönnemann, Tuuli Lappalainen, Pejman Mohammadi

ANEVA-h improves detection of rare regulatory variants by analyzing haplotype-level ASE data, increasing testable genes and reducing false positives in GTEx and clinical cohorts.

medRxiv · Dec 18, 2025 · PreprintGenetic & Genomic Medicine