Author

Karen L Eilbeck

University of UtahORCID 0000-0002-0831-6427Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:software / tool· 1

Frequent Co-Authors

Ada HamoshiD· 1 shared Ana RathiD· 1 shared Angharad M. RobertsiD· 1 shared Aristeidis G. TelonisiD· 1 shared Bastian FrommiD· 1 shared Christa Lese MartiniD· 1 shared Daniel PerrettiD· 1 shared David SantiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ada HamoshORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedNov 17, 2023

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

Angharad M. Roberts, Marina T. DiStefano, Erin Rooney Riggs…·James S. Ware

This paper standardizes terminology for describing disease-gene relationships to improve variant classification and genetic test interpretation.

20 citations

statistical modeldatabase / resource

𝕏 PostBluesky

BioinformaticsBioinformaticsPeer-reviewedAug 28, 2019

Unification of miRNA and isomiR research: the mirGFF3 format and the mirtop API

Thomas Desvignes, Phillipe Loher, Karen L Eilbeck…·Lorena Pantano

The paper introduces mirGFF3, a standardized format for miRNA/isomiR analysis, and mirtop, a tool to convert outputs into this format, enabling data sharing and comparative analysis.

58 citations

bulk RNA-seqstatistical model

𝕏 PostBluesky