Mosaic Bodies Shaped by Genetic Alterations
From the moment of fertilization, postzygotic mutations begin to accumulate in the human body, even with endogenous safeguards such as proofreading and mismatch repair in place. These mosaic single-nucleotide variants (mSNVs), arising in lineage-specific patterns, leave distinct mutational footprints in clonal populations. By studying them, we gain insight into the processes of mutation acquisition and clonal dynamics across development, aging, and disease.
1 | Mosaic Mutations Across Human Tissues
Mutations that arise in our cells become permanent markers, passed on to their cellular descendants. These mutational footprints form unique landscapes across organs and tissues, providing windows into the biology of human development and physiology. Our group specializes in the accurate detection of mosaic mutations, establishing robust baselines that allow us to uncover novel biological phenomena across diverse cell types and tissues.
2 | Genetic Contributions to Complex Diseases
Complex diseases such as meningomyelocele, autism spectrum disorder, and Tourette’s syndrome involve hundreds of genes interacting with environmental factors. Because they are not governed by a simple one-gene–one-disease model, their genetic underpinnings are difficult to resolve. By analyzing disease genome data, we seek to identify critical genes and biological pathways, illuminating how genomic variation contributes to human disease.
3 | Computational Methods for Accurate Mutation Detection
Detecting somatic mutations in non-cancerous or healthy tissues poses significant challenges, due to their rarity and the complexity of the genome. To overcome this, our group develops innovative computational algorithms that enhance sensitivity and accuracy, even in difficult genomic regions. These methods are grounded in creative approaches and deep expertise in genomic data analysis, advancing the discovery of rare but biologically meaningful mutations.
