Publications by authors named "Aaron Quinlan"

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Human acrocentric chromosome short arm mutation and recombination.
Jiadong Lin, F Kumara Mastrorosa, Michelle D Noyes, DongAhn Yoo, Arang Rhie, Aaron R Quinlan

bioRxiv· December 2025

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Inherited genetic risk in stillbirth: A shared genomic segments analysis of high-risk pedigrees.
Tsegaselassie Workalemahu, Michael J Madsen, Sarah Lopez, Jessica M Page, Nathan R Blue, Aaron Quinlan

HGG Adv· November 2025

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Direct identification of mobile element insertions from single molecule sequencing of human sperm.
Stacy Li, Kenneth Aston, Joseph G Gleeson, Aaron Quinlan, Xiaoyu Yang

bioRxiv· October 2025

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AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity.
Hannah C Happ, Thomas A Sasani, Derek Warner, Deborah W Neklason, Aaron R Quinlan

bioRxiv· September 2025

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A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.
Sarah Fazal, Harriet Dashnow, Maike F Dohrn, Jacquelyn Raposo, Laurel Hiatt, Aaron R Quinlan

Genet Med· August 2025

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The Platinum Pedigree: a long-read benchmark for genetic variants.
Zev Kronenberg, Cillian Nolan, David Porubsky, Tom Mokveld, William J Rowell, Aaron R Quinlan

Nat Methods· August 2025

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Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP.
Muhammad Riaz Khan, Arvand Akbari, Thomas J Nicholas, Helen Castillo-Madeen, Muhammad Ajmal, Aaron R Quinlan

Andrology· July 2025

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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, Aaron R Quinlan

Nature· July 2025

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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

Am J Hum Genet· March 2025

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Vcfexpress: flexible, rapid user-expressions to filter and format VCFs.
Brent S Pedersen, Aaron R Quinlan

Bioinformatics· March 2025

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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, Aaron R Quinlan

NPJ Genom Med· March 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, Aaron R Quinlan

Genome Med· March 2025

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Improved characterization of 3' single-cell RNA-seq libraries with paired-end avidity sequencing.
John T Chamberlin, Austin E Gillen, Aaron R Quinlan

NAR Genom Bioinform· December 2024

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Vcfexpress: flexible, rapid user-expressions to filter and format VCFs.
Brent S Pedersen, Aaron R Quinlan

bioRxiv· November 2024

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Characterization and visualization of tandem repeats at genome scale.
Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, Aaron R Quinlan

Nat Biotechnol· October 2024

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Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.
Miriam Bertrand, Gulalai Shah, Brent S Pedersen, Alexander Schulz, Anja Weise, Aaron R Quinlan

Mol Syndromol· October 2024

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Placental somatic mutation in human stillbirth and live birth: A pilot case-control study of paired placental, fetal, and maternal whole genomes.
Amelia D Wallace, Nathan R Blue, Terry Morgan, Tsegaselassie Workalemahu, Robert M Silver, Aaron R Quinlan

Placenta· September 2024

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A familial, telomere-to-telomere reference for human mutation and recombination from a four-generation pedigree.
David Porubsky, Harriet Dashnow, Thomas A Sasani, Glennis A Logsdon, Pille Hallast, Aaron R Quinlan

bioRxiv· August 2024

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Identification of as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in .
Holly J Thorpe, Brent S Pedersen, Miranda Dietze, Nichole Link, Aaron R Quinlan

bioRxiv· August 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· July 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, Aaron Quinlan

medRxiv· May 2024

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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

Genetics· April 2024

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Differences in molecular sampling and data processing explain variation among single-cell and single-nucleus RNA-seq experiments.
John T Chamberlin, Younghee Lee, Gabor T Marth, Aaron R Quinlan

Genome Res· March 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· February 2024

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Effects of parental age and polymer composition on short tandem repeat mutation rates.
Michael E Goldberg, Michelle D Noyes, Evan E Eichler, Aaron R Quinlan, Kelley Harris

bioRxiv· December 2023

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