Author

Eloise S. Beer Wells

Centre for Human GeneticsORCID 0009-0000-8438-3042Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Stephan J. SandersiD· 2 shared Alexandra C Martin-GearyiD· 1 shared Alicia LjungdahliD· 1 shared Caroline F. Wright· 1 shared Emilie M. WigdoriD· 1 shared Hyung Chul KimiD· 1 shared Jonathan S. MilliD· 1 shared Laura De Conti· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenomics

Stephan J. SandersORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintDec 9, 2025

Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease

Eloise S. Beer Wells, Laura De Conti, Hyung Chul Kim…·Nicola Whiffin

This study identifies 5'UTR exons containing uORFs as targets for splice-switching to increase protein translation in haploinsufficient disease genes.

DOI 10.64898/2025.12.07.692584

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsbioRxivPreprintOct 24, 2023

AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms

Alicia Ljungdahl, Sayeh Kohani, Nicholas F. Page…·Stephan Sanders

AlphaMissense shows strong correlation with functional assays of missense variants but has modest improvement over other predictors.

24 citations

humanDNA methylation

𝕏 PostBluesky