Aaron R. Quinlan

基本信息

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职业迁徙

个人简介

He is an expert in computational genomics and the development of data integration tools. Dr. Quinlan has developed several popular software packages for large-scale genome analyses and human disease studies.

Dr. Quinlan’s research group applies its methods to several human disease contexts and is currently focused on developing new strategies for extracting insight into disease from genetic variation observed among millions of human genomes.

研究兴趣

论文共 149 篇作者统计合作学者相似作者

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Identification of CNTN2 As a Genetic Modifier of PIGA-CDG in a Family with Incomplete Penetrance and in Drosophila

Holly J Thorpe,Brent S Pedersen, Miranda Dietze,Nichole Link,Aaron R Quinlan,Joshua L Bonkowsky, Ashley Thomas,Clement Y Chow

American journal of human geneticsno. 3 (2025): 572-582

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Human De Novo Mutation Rates from a Four-Generation Pedigree Reference

David Porubsky,Harriet Dashnow, Thomas A Sasani,Glennis A Logsdon,Pille Hallast, Michelle D Noyes, Zev N Kronenberg, Tom Mokveld, Nidhi Koundinya, Cillian Nolan, Cody J Steely,Andrea Guarracino,Egor Dolzhenko,William T Harvey,William J Rowell, Kirill Grigorev, Thomas J Nicholas, Michael E Goldberg, Keisuke K Oshima, Jiadong Lin, Peter Ebert,W Scott Watkins, Tiffany Y Leung, Vincent C T Hanlon, Sean McGee,Brent S Pedersen, Hannah C Happ,Hyeonsoo Jeong, Katherine M Munson,Kendra Hoekzema, Daniel D Chan, Yanni Wang, Jordan Knuth, Gage H Garcia, Cairbre Fanslow,Christine Lambert,Charles Lee, Joshua D Smith,Shawn Levy, Christopher E Mason,Erik Garrison, Peter M Lansdorp,Deborah W Neklason,Lynn B Jorde,Aaron R Quinlan,Michael A Eberle, Evan E Eichler

Nature (2025)

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STRchive: a Dynamic Resource Detailing Population-Level and Locus-Specific Insights at Tandem Repeat Disease Loci

Laurel Hiatt,Ben Weisburd,Egor Dolzhenko, Vincent Rubinetti, Akshay K. Avvaru,Grace E. VanNoy,Nehir Edibe Kurtas,Heidi L. Rehm,Aaron R. Quinlan,Harriet Dashnow

Genome Medicineno. 1 (2025): 1-19

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The Utah NeoSeq Project: a Collaborative Multidisciplinary Program to Facilitate Genomic Diagnostics in the Neonatal Intensive Care Unit

Sabrina Malone Jenkins, Rachel N Palmquist,Barry Moore, Steven E Boyden, Thomas J Nicholas,Pinar Bayrak-Toydemir, Rong Mao, J Andrew R Farrell, Carson H Holt, Shawn G Rynearson, Chelsea M Solorzano,Alistair Ward,D Hunter Best, Najla Al-Sweel, Dawn L Bentley,Luca Brunelli, Clement Y Chow, Devin W Close, Michael J Cormier, Malia J Deshotel, Jacob Durtschi, Erik J Eide, Luaiva Floyd, Eric K Fredrickson, Makenzie L Fulmer, Edgar J Hernandez,Ashley L Kapron,Mary Anne Karren, Robert G Lewis,Christine E Miller,L Charles Murtaugh, Kelsey E Nicholson,Katherine Noble, Brendan D O'Fallon, John M O'Shea, David C Pattison,Brent S Pedersen, Brandy J Petersen, Bennet D Peterson,Lucilla Pizzo, Hayley M Reynolds,Paul Rindler, Carrie B Torr,Ting Wen,H Joseph Yost, Jian Zhao,Mark Yandell,Gabor T Marth,Aaron R Quinlan,John C Carey,Brian J Shayota,Martin Tristani-Firouzi,Joshua L Bonkowsky

NPJ genomic medicineno. 1 (2025): 26-26

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Vcfexpress: Flexible, Rapid User-Expressions to Filter and Format VCFs

Brent S Pedersen,Aaron R Quinlan

Bioinformatics (Oxford, England)no. 3 (2025)

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A Genome-Wide Approach for the Discovery of Novel Repeat Expansion Disorders in the Undiagnosed Diseases Network Cohort