Author

Patrick Emmet Duffy

Mayo ClinicORCID 0000-0002-4483-5005Unclaimed 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 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Approach:deep learning· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Approach:large language model· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Adeola A Obajemu· 1 shared Alassane DickoiD· 1 shared Alexander J. RyuiD· 1 shared Almahamoudou MahamariD· 1 shared Amy A HutchinsoniD· 1 shared Archa JainiD· 1 shared Bridget ToomeyiD· 1 shared Carl MolnariD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Adeola A Obajemu

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintJul 11, 2026

✦ In-depth digest

Interpretable variant effect prediction from genomic foundation model embeddings

Michael T. Pearce, Thomas Dooms, Ryo Yamamoto…·Nicholas K. Wang

A low-rank covariance probe on Evo 2 embeddings predicts ClinVar pathogenicity across SNVs and indels, while annotation probes plus an LLM produce mechanistic hypotheses; scores released for 4.2 million variants.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsGenes and ImmunityPeer-reviewedApr 13, 2021

IFN-{lambda}4 is associated with increased risk and earlier occurrence of gastrointestinal, respiratory and malarial infections in Malian children

Ludmila Prokunina‐Olsson, Robert D. Morrison, Adeola A Obajemu…·Patrick Emmet Duffy

This study finds that genetic variants affecting IFN-λ4 production are linked to increased risk and earlier occurrence of gastrointestinal, respiratory, and malaria infections in Malian children.

14 citations

humanstatistical model

𝕏 PostBluesky