Author

Elizabeth F Hird

NHS Lothian

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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Genomics· 2

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Assay:bulk RNA-seq· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Approach:benchmark study· 1 Assay:ChIP-seq· 1 Research Focus:database / resource· 1

Frequent Co-Authors

Elias T. FrimaniD· 2 shared Giovanna WeykopfiD· 2 shared Simon Cameron BiddieiD· 2 shared Wendy A. BickmoreiD· 2 shared Alexis IoannouiD· 1 shared Audrey AC CouttsiD· 1 shared Benjamin LiveseyiD· 1 shared Chloë M. StantoniD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Elias T. FrimanORCID

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2 papers

Recent·Most cited

Disease-associated genetic variants can cause mutations in tissue-specific protein isoforms

Giovanna Weykopf, Mihaly Badonyi, Elias T. Friman, Jasmine Minh Hang Nguyen, Alexis Ioannou, Benjamin Livesey, Audrey AC Coutts, Elizabeth F Hird, Murray Wham, Chloë M. Stanton, Véronique Vitart, Jing Su, Lee Murphy, John Kenneth Baillie, Mark D. Gorrell, , Simon Cameron Biddie

The paper shows that disease-associated variants in alternative protein isoforms can cause structural mutations, emphasizing the need to consider tissue-specific expression and full-length transcripts in variant interpretation.

bioRxiv · Jul 24, 2025 · PreprintGenomics

DNA-binding factor footprints and enhancer RNAs identify functional non-coding genetic variants

Simon Cameron Biddie, Giovanna Weykopf, Elizabeth F Hird, Elias T. Friman, Wendy A. Bickmore

The paper identifies functional non-coding genetic variants by combining DNase footprints and enhancer RNAs, introducing a framework called FINDER to prioritize variants for functional validation.

bioRxiv · Nov 20, 2023 · PreprintGenomics