The Druley Lab is focused on understanding the impact of rare genetic variation in complex pediatric disease. We work in parallel on genomic technology innovation, computational algorithm development and the clinical application of both, especially pediatric cancers. In identifying critical genes harboring an abundance of functional rare variation, we hope to translate the resulting knowledge into clinically-actionable information that can ultimately alter the prognosis and treatment of individuals with these diseases.
Individual rare variants often confer subtle effects and multiple variants may act in synergy, which makes identifying disease-associated rare variation and properly aggregating disparate rare variants into a common signal difficult.
We have designed and implemented various pooled, next-generation DNA sequencing strategies and algorithms for rare variant aggregation in order to characterize functional rare variants more quickly, cost-effectively and accurately.