Author

Matthew A. Firpo

University of UtahORCID 0000-0002-7983-3982Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:scRNA-seq· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alison Fraser· 1 shared Amanda GammoniD· 1 shared Amy Lovichik· 1 shared Andrew FarrelliD· 1 shared Angela K. SnowiD· 1 shared Bryony A. ThompsoniD· 1 shared Cathryn Koptiuch· 1 shared David E. GoldgariD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetics

Alison Fraser

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2 papers

Recent·Most cited

Single-cell RNA sequencing in Hirschsprungs disease tissues reveals lack of neuronal differentiation in the aganglionic colon segment

Szabolcs Tarapcsák, Xiaomeng Huang, Yi Qiao, Andrew Farrell, Lija Mammen, Amy Lovichik, Gayatri Deepti Khanderao, Teresa S. Musci, Philip J. Moos, Matthew A. Firpo, Michael D. Rollins, Gábor Marth

This study uses scRNA-seq and WGS to analyze HSCR patient tissues, identifying impaired neuronal differentiation in aganglionic colon segments.

bioRxiv · Jul 1, 2025 · PreprintGenomics

Universal Panel Testing of Pancreatic Cancer Cases for Cancer Predisposition

Erin L. Young, Bryony A. Thompson, Deborah Wood Neklason, Angela K. Snow, Matthew A. Firpo, Theresa Louise Werner, Russell Bell, Nykole Sutherland, Ken R. Smith, Justin Berger, Alison Fraser, Amanda Gammon, Cathryn Koptiuch, Wendy K. Kohlmann, Leigh A. Neumayer, , Sean V. Tavtigian

This study tests pancreatic cancer cases for germline variants in HBOC and CRC genes, finding 8.9% and 10.5% of cases carry variants with potential clinical significance.

BMC Cancer · Jun 26, 2018Peer-reviewedGenetics