Aaron R. Quinlan

机构：University of Utah, Star Center · ORCID：0000-0003-1756-0859

发表论文 253 篇 · 总被引 62340 次 · h-index 58

代表论文

• Human de novo mutation rates from a four-generation pedigree reference (2025 · Nature · 被引 89)
• STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci (2025 · Genome Medicine · 被引 18)
• Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database (2025 · Nature Communications · 被引 15)
• The Platinum Pedigree: a long-read benchmark for genetic variants (2025 · Nature Methods · 被引 13)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• Sperm from infertile, oligozoospermic men have elevated mutation rates (2024 · medRxiv · 被引 7)