Author

Natalie Bir

Nationwide Children's Hospital

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

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Benjamin KellyiD· 2 shared Catherine E. CottrelliD· 2 shared Elaine R. MardisiD· 2 shared James FitchiD· 2 shared Peter WhiteiD· 2 shared Richard K. WilsoniD· 2 shared Vincent J. MagriniiD· 2 shared Adam HermaniD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Benjamin KellyORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Discovery of Clinically Relevant Fusions in Pediatric Cancer

Stephanie LaHaye, James Fitch, Kyle Voytovich, Adam Herman, Benjamin Kelly, Grant Lammi, Jeremy A. Arbesfeld, Saranga Wijeratne, Samuel J. Franklin, Kathleen M. Schieffer, Natalie Bir, Sean D McGrath, Anthony R. Miller, Amy N. Wetzel, Katherine E. Miller, , Peter White

The paper develops an ensemble fusion-calling pipeline to improve the detection of clinically relevant gene fusions in pediatric cancer, identifying 67 fusions with a 29.3% diagnostic yield.

BMC Genomics · Dec 1, 2021Peer-reviewedGenomics

Samovar: Single-sample mosaic SNV calling with linked reads

Charlotte A. Darby, James Fitch, Patrick Joseph Brennan, Benjamin Kelly, Natalie Bir, Vincent J. Magrini, Jeffrey Leonard, Catherine E. Cottrell, Julie M. Gastier, Richard K. Wilson, Elaine R. Mardis, Peter White, Ben Langmead, Michael C. Schatz

Samovar calls mosaic SNVs in single samples using linked-read data with accuracy comparable to trio or tumor/normal pair analyses.

iScience · May 29, 2019Peer-reviewedGenomics