Author

Aaron Quinlan

University of Utah

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Bioinformatics· 2 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Assay:whole-genome sequencing· 3 Research Focus:benchmarking· 2 Research Focus:database / resource· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Organism:E. coli· 1 Assay:electronic health records· 1

Frequent Co-Authors

Nicholas Loman· 2 shared Alfredo Novoa· 1 shared Brent Pedersen· 1 shared Bryce Christensen· 1 shared Darin Isakson· 1 shared Hannah C. HappiD· 1 shared Josh Quick· 1 shared Joshua L. BonkowskyiD· 1 shared

Activity by Year

2014-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenomics

Nicholas Loman

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Characterization of Leukodystrophy Penetrance Using Large-Scale Integration of Genomic Population Screening and Electronic Health Records

Hannah C. Happ, Bryce Christensen, Stacey Knight, Alfredo Novoa, Darin Isakson, Lincoln D. Nadauld, Aaron Quinlan, Joshua L. Bonkowsky

The paper integrates genomic screening with EHR data to assess leukodystrophy penetrance and phenotypic variability, finding reduced penetrance and broad phenotypic spectra in some cases.

medRxiv · Jul 6, 2026 · PreprintGenetic & Genomic Medicine

Vcfanno: fast, flexible annotation of genetic variants

Brent Pedersen, Ryan Layer, Aaron Quinlan

Vcfanno annotates genetic variants in VCF files using diverse datasets, achieving high speed with a custom parallel algorithm.

bioRxiv · Mar 2, 2016Bioinformatics

A reference bacterial genome dataset generated on the MinION™ portable single-molecule nanopore sequencer

Josh Quick, Aaron Quinlan, Nicholas Loman

The paper presents a reference bacterial genome dataset generated using the MinION™ sequencer for Escherichia coli K-12 substr. MG1655, including base-called sequences and raw event data for method development.

bioRxiv · Sep 26, 2014Genomics

Poretools: a toolkit for analyzing nanopore sequence data

Nicholas Loman, Aaron Quinlan

Poretools provides a toolkit for analyzing nanopore sequencing data, offering format conversion and visualization tools for quality control and downstream analysis.

bioRxiv · Jul 23, 2014Bioinformatics