Author

Stacey Agu

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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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

A. D. Neale· 1 shared Alba Sanchis‐JuaniD· 1 shared Alicia Pham· 1 shared Alysia Kern LovgreniD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Ben WeisburdiD· 1 shared Benjamin Blankenmeister· 1 shared Brian E. Mangilog· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A. D. Neale

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 20, 2026

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

Anne O’Donnell‐Luria, Stephanie P. DiTroia, Melanie O’Leary…·Heidi L. Rehm

The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.

DOI 10.64898/2026.09.15.26363084

humanwhole-genome sequencing

𝕏 PostBluesky