Aaron R. Quinlan

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Bio

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.

Research Interests

Papers共 150 篇Author StatisticsCo-AuthorSimilar Experts

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Effects of Parental Age and Polymer Composition on Short Tandem Repeat De Novo Mutation Rates

Michael E. Goldberg,Michelle D. Noyes,Evan E. Eichler,Aaron R. Quinlan,Kelley Harris

GENETICSno. 4 (2024)

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A Familial, Telomere-to-telomere Reference for Human De Novo Mutation and Recombination from a Four-Generation Pedigree

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, Keisuke K Oshima,Jiadong Lin,Peter Ebert,W Scott Watkins, Tiffany Y Leung,Vincent C T Hanlon,Sean McGee,Brent S Pedersen,Michael E Goldberg, 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

bioRxiv the preprint server for biology (2024)

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Improved Characterization of Single-Cell RNA-seq Libraries with Paired-End Avidity Sequencing

John T Chamberlin,Austin E Gillen,Aaron R Quinlan

bioRxiv the preprint server for biology (2024)

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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,Grace E VanNoy, Edibe Nehir Kurtas,Heidi L Rehm,Aaron Quinlan,Harriet Dashnow

medRxiv : the preprint server for health sciences (2024)

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Epistasis Between Mutator Alleles Contributes to Germline Mutation Spectrum Variability in Laboratory Mice

Thomas A. Sasani,Aaron R. Quinlan,Kelley Harris

ELIFE（2024）

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De Novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

Miriam Bertrand, Gulalai Shah,Brent S. Pedersen, Alexander Schulz,Anja Weise,Thomas Liehr,Peter Huppke,Stephanie DiTroia,Aaron R. Quinlan,Tobias B. Haack,Ralf A. Husain

MOLECULAR SYNDROMOLOGY（2024）

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Characterization and Visualization of Tandem Repeats at Genome Scale

NATURE BIOTECHNOLOGY (2024)

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The Platinum Pedigree: A Long-Read Benchmark for Genetic Variants

Zev Kronenberg, Cillian Nolan, Tom Mokveld,William J Rowell, Sangjin Lee,Egor Dolzhenko,Pi-Chuan Chang,James Matthew Holt, Christopher T Saunders, Nathanael D. Olson,Sean McGee,Andrea Guarracino, Nidhi Koundinya,William T Harvey,W. Scott Watkins,Katherine M Munson,Kendra Hoekzema, Khi Pin Chua, Cairbre Fanslow,Christine Lambert,Harriet Dashnow,Erik Garrison, Josh Smith,Peter Lansdorp,Justin M Zook,Andrew Carroll,Lynn B. Jorde,Deborah W Neklason,Aaron Quinlan,Evan Eichler, Michael A Eberle

biorxiv（2024）

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

Brent S Pedersen,Aaron R Quinlan

bioRxiv the preprint server for biology (2024)

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TRGT-denovo: Accurate Detection of De Novo Tandem Repeat Mutations

T Mokveld,E Dolzhenko, H Dashnow, T J Nicholas, T Sasani, B van der Sanden, B Jadhav, B Pedersen, Z Kronenberg, A Tucci, A J Sharp,A R Quinlan,C Gilissen,A Hoischen, M A Eberle

bioRxiv the preprint server for biology (2024)

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Papers共 150 篇Author StatisticsCo-AuthorSimilar Experts