Aaron R. Quinlan

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Colibactin-associated mutations in the human colon appear to reflect anatomy and early exposure, not oncogenesis

  medRxiv · 2026-04-15

• The selective dynamics of interruptions at short tandem repeats

  Genetics · 2026-03-25

• A family portrait of the genomic factors shaping tandem repeat mutagenesis

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-03-09 · 1 citations

• Human acrocentric chromosome short arm <i>de novo</i> mutation and recombination

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-12-17 · 2 citations

• Inherited genetic risk in stillbirth: A shared genomic segments analysis of high-risk pedigrees

  Human Genetics and Genomics Advances · 2025-11-14

• Genetic Factors Contributing to Placental Insufficiency: Whole-Genome Sequencing of Trios with Recurrent Pregnancy Loss and Live Births

  Placenta · 2025-11-01

• Direct identification of <i>de novo</i> mobile element insertions from single molecule sequencing of human spermPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-10-26

• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

  Genome Medicine · 2025-10-21 · 8 citations

• AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexityPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-09-25 · 3 citations

• The Platinum Pedigree: a long-read benchmark for genetic variants

  Nature Methods · 2025-08-01 · 13 citations

• The selective dynamics of interruptions at short tandem repeatsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-06-12 · 1 citations

• Human de novo mutation rates from a four-generation pedigree reference

  Nature · 2025-04-23 · 81 citations

• STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

  Genome Medicine · 2025-03-26 · 18 citations

• The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

  npj Genomic Medicine · 2025-03-22 · 1 citations

• Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila

  The American Journal of Human Genetics · 2025-02-12 · 2 citations

• Vcfexpress: flexible, rapid user-expressions to filter and format VCFsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-11-06 · 1 citations

• The Platinum Pedigree: A long-read benchmark for genetic variantsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-10-03 · 6 citations

• SHARED GENOMIC SEGMENT ANALYSIS IN LARGE HIGH-RISK STILLBIRTH PEDIGREES IMPLICATES GENES IN INHERITED STILLBIRTH RISK

  Fertility and Sterility · 2024-10-01

• Improved characterization of 3′ single-cell RNA-seq libraries with paired-end avidity sequencing

  NAR Genomics and Bioinformatics · 2024-09-28 · 3 citations

• Inherited Genetic Risk in Stillbirth: A Shared Genomic Segments Analysis of High-Risk Pedigrees. Preprint

  Research Square · 2024-08-23