Aaron Quinlan

Aaron Quinlan is a Professor and Chair of Human Genetics at the University of Utah's School of Medicine. His research integrates genetics, genomics, computer science, and machine learning to address critical problems in genome biology and the genetic basis of diseases. He focuses on genome variation analysis, chromosome evolution, and mining genetic variation for insights into human disease.

• B.S., College of William and Mary
• Ph.D., Boston College

Quinlan's work emphasizes practical approaches to understanding genome mutation mechanisms, rare disease genetics, and computational genomics. His lab develops tools like STRchive and Vcfexpress for tandem repeat analysis and variant filtering, contributing to diagnostic advancements in genomic medicine.

Recent research trends highlight his expertise in:

• De novo mutation rate estimation
• Tandem repeat expansion disorders
• Male infertility genetics
• Genome-wide variant discovery
• Structural variant detection
• Computational genomics tools

Quinlan leads the Utah Center for Genetic Discovery and participates in the Undiagnosed Diseases Network. His collaborative projects span neonatal genomic diagnostics, equity in rare disease research, and multidisciplinary approaches to complex genetic disorders.