Author

Heather L. Paterson

Boston Children's HospitalORCID 0009-0004-8963-0232Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alan H. BeggsiD· 1 shared Amy Clugston· 1 shared Catherine A. BrownsteiniD· 1 shared Damian P. SmedleyiD· 1 shared Erin Rooney RiggsiD· 1 shared Ingrid A. HolmiD· 1 shared John S. BrownsteiniD· 1 shared Julie A. McMurryiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alan H. BeggsORCID

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1 paper

Recent·Most cited

Development of self-phenotyping tools to empower patients and improve diagnostics

Kent Shefchek, Sonja I. Ziniel, Julie A. McMurry, Catherine A. Brownstein, John S. Brownstein, Erin Rooney Riggs, Matthew Might, Damian P. Smedley, Amy Clugston, Alan H. Beggs, Heather L. Paterson, Peter N. Robinson, Nicole Vasilevsky, Ingrid A. Holm, Melissa Anne Haendel

The paper evaluates two self-phenotyping tools, showing that GenomeConnect provides more accurate phenotype profiles while Phenotypr offers greater precision and user preference for its autocomplete format.

EBioMedicine · Oct 30, 2025Peer-reviewedGenetic & Genomic Medicine