2026 Aaron R. Quinlan: Computer Science Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Computer Science	43	7726	7503	3333	3206	86	48368

Overview

Aaron R. Quinlan is affiliated with the University of Utah in the United States, contributing extensively to the field of Biochemistry, Genetics and Molecular Biology. Their research output comprises 166 publications primarily focused on Molecular Biology, Genetics, and subfields including Cancer Research, Plant Science, and Cellular and Molecular Neuroscience.

The scientist's work covers a diverse range of topics, with a notable emphasis on Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genomic Variations and Chromosomal Abnormalities, as well as RNA and Protein Synthesis Mechanisms. Additional focus areas include Cancer Genomics and Diagnostics, Genetic Neurodegenerative Diseases, and RNA Research and Splicing.

Frequent publication venues highlight active engagement with both preprint and peer-reviewed journals. These include bioRxiv (Cold Spring Harbor Laboratory) where they have 31 publications, Genome Medicine and Genetics in Medicine Open, each with 4 publications, followed by multiple publications in eLife and Bioinformatics.

Aaron R. Quinlan frequently collaborates with several researchers in their field. Notable co-authors are Brent S. Pedersen, Harriet Dashnow, Thomas A. Sasani, Michael J. Cormier, and Thomas J. Nicholas, reflecting sustained partnerships on multiple studies.

Among their recent papers are:

Characterization and visualization of tandem repeats at genome scale, 2024, Nature Biotechnology
Samplot: a platform for structural variant visual validation and automated filtering, 2021, Genome Biology
Effective variant filtering and expected candidate variant yield in studies of rare human disease, 2021, npj Genomic Medicine
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families, 2021, The American Journal of Human Genetics
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches, 2020, Genome Medicine

Best Publications

BEDTools: a flexible suite of utilities for comparing genomic features

Aaron R. Quinlan;Ira M. Hall

29342
Citations
Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

Arturo López Castel;John D Cleary;Christopher E Pearson

10086
Citations
BEDTools: The Swiss‐Army Tool for Genome Feature Analysis

Aaron R. Quinlan

2581
Citations
Nanopore sequencing and assembly of a human genome with ultra-long reads

Miten Jain;Sergey Koren;Karen H Miga;Josh Quick

2064
Citations
LUMPY: a probabilistic framework for structural variant discovery

Ryan M Layer;Colby Chiang;Aaron R Quinlan;Ira M Hall

1667
Citations
Mapping copy number variation by population-scale genome sequencing

Ryan E. Mills;Klaudia Walter;Chip Stewart;Robert E. Handsaker

1331
Citations
Mosdepth: quick coverage calculation for genomes and exomes

Brent S Pedersen;Aaron R Quinlan

1206
Citations
BamTools: a C++ API and toolkit for analyzing and managing BAM files.

Derek W. Barnett;Erik K. Garrison;Aaron R. Quinlan;Michael P. Strömberg

1196
Citations
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

Suna Onengut-Gumuscu;Wei-Min Chen;Oliver Burren;Nick J Cooper

758
Citations
Copy number variation detection and genotyping from exome sequence data

Niklas Krumm;Peter H. Sudmant;Arthur Ko;Brian J. O'Roak

744
Citations
SpeedSeq: ultra-fast personal genome analysis and interpretation

Colby Chiang;Ryan M Layer;Gregory G Faust;Michael R Lindberg

609
Citations
Whole-genome sequencing and variant discovery in C. elegans.

La Deana W. Hillier;Gabor T. Marth;Aaron R. Quinlan;David Dooling

572
Citations
A map of human genome variation from population-scale sequencing

Richard M. Durbin;David L. Altshuler;Gonçalo R. Abecasis;David R. Bentley

569
Citations
Pybedtools: a flexible Python library for manipulating genomic datasets and annotations

Ryan K. Dale;Brent S. Pedersen;Aaron R. Quinlan

567
Citations
GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

Umadevi Paila;Brad A. Chapman;Rory Kirchner;Aaron R. Quinlan

503
Citations
Poretools: a toolkit for analyzing nanopore sequence data

Nicholas J. Loman;Aaron R. Quinlan

470
Citations
Rapid whole-genome mutational profiling using next-generation sequencing technologies

Douglas R. Smith;Aaron R. Quinlan;Heather E. Peckham;Kathryn Makowsky

353
Citations
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome

Aaron R. Quinlan;Royden A. Clark;Svetlana Sokolova;Mitchell L. Leibowitz

341
Citations
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

Donna M. Werling;Harrison Brand;Harrison Brand;Joon Yong An;Matthew R. Stone

339
Citations
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

Joon Yong An;Kevin Lin;Lingxue Zhu;Donna M. Werling

324
Citations
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

Suna Onengut-Gumuscu;Wei-Min Chen;Oliver Burren;Emily Farber

2
Citations
LUMPY: A probabilistic framework for structural variant discovery

Ryan M. Layer;Ira M. Hall;Aaron R. Quinlan

2
Citations

Frequent Co-Authors

Gabor T. Marth University of Utah

Mark J. Daly Massachusetts General Hospital

Michael E. Talkowski Harvard University

Harrison Brand Harvard University

Lynn B. Jorde University of Utah

Patrick Concannon University of Florida

Jill A. Rosenfeld Baylor College of Medicine

Nicholas J. Loman University of Birmingham

Bernie Devlin University of Pittsburgh

Stephen S. Rich University of Virginia

External Links

Personal website of Aaron R. Quinlan

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