Author

Rachel A. Hoffing

Alnylam Pharmaceuticals (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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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Lucas D. WardiD· 2 shared Aaron M. HollemaniD· 1 shared Aimée M. DeatoniD· 1 shared Anna Borodovsky· 1 shared Anne O’Donnell‐LuriaiD· 1 shared D.N. CooperiD· 1 shared Daniel ZeibergiD· 1 shared Lynne KrohniD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersBioinformatics

Lucas D. WardORCID

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Author profile →

2 papers

Recent·Most cited

Ancestry-specific performance of variant effect predictors in clinical variant classification

Rachel A. Hoffing, Daniel Zeiberg, Sarah L. Stenton, Matthew E. Mort, D.N. Cooper, Matthew W. Hahn, Anne O’Donnell‐Luria, Lucas D. Ward, Predrag Radivojac A

The paper evaluates how well variant effect predictors perform across different genetic ancestries, finding comparable performance across major groups after accounting for allele frequency.

bioRxiv · Feb 17, 2026 · PreprintBioinformatics

Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration

Aaron M. Holleman, Aimée M. Deaton, Rachel A. Hoffing, Lynne Krohn, Philip J. LoGerfo, Paul Nioi, Mollie E. Plekan, Sebastian Akle Serrano, Simina Ticau, Tony E. Walshe, Anna Borodovsky, Lucas D. Ward

The paper identifies rare variants in CFHR5 associated with reduced risk of AMD and increased retinal thickness, suggesting CFHR5 as a therapeutic target.

medRxiv · Nov 13, 2024 · PreprintGenetic & Genomic Medicine