Author

Beth A. Pitel

Mayo ClinicORCID 0000-0002-5138-824XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alex Handler WagneriD· 2 shared Robert R. FreimuthiD· 2 shared Adam A. Margolin· 1 shared Akash RampersadiD· 1 shared Alan Lennon· 1 shared Brandon LaBarge· 1 shared Brendan Michael ReardoniD· 1 shared Brian WalshiD· 1 shared

Activity by Year

2020-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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2 shared papersGenomics

Alex Handler WagnerORCID

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3 papers

Recent·Most cited

GenomicsbioRxivPreprintApr 30, 2026

The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant Categories

Daniel Puthawala, Brendan Michael Reardon, Lawrence Babb…·Alex Handler Wagner

The paper introduces Cat-VRS, a framework for computable representation of genomic variant categories to improve data interoperability and clinical interpretation.

DOI 10.64898/2026.02.10.705161

whole-genome sequencingstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintNov 7, 2020

A National Multicenter Evaluation of the Clinical Utility of Optical Genome Mapping for Assessment of Genomic Aberrations in Acute Myeloid Leukemia

Brynn Levy, Linda Banovic Baughn, Scott Chartrand…·James Riley Broach

This study evaluates optical genome mapping (OGM) for detecting genomic aberrations in AML, finding it identifies all clinically relevant SVs and CNVs and detects additional variants missed by standard methods.

19 citations

humanwhole-genome sequencing

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BioinformaticsNature GeneticsPeer-reviewedApr 1, 2020

A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants

Alex Handler Wagner, Brian Walsh, Georgia Mayfield…·Adam A. Margolin

The paper harmonizes clinical interpretations of cancer genomic variants across six knowledgebases, improving overlap and matching with patient cohorts.

164 citationstop 1%

humanwhole-exome sequencing

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