Genome-wide association studies (GWAS) have implicated thousands of complex trait-variant associations, an estimated 90% of which reside in the noncoding genome. While noncoding variants generally have poorly understood ...

Somatic mutations, present in a subset of cells in the body, provide a unique opportunity for mechanistic understanding of disease. Somatic mutations represent natural experiments in humans akin to conditional transgenic ...

Pediatric cancers are fundamentally epigenetic diseases of dysregulated development and harbor few mutations in genes involved in immediately druggable pathways. Recently, the hijacking of cell type-specific transcription ...

Genome engineering offers the opportunity to bypass natural selection to generate novel organisms. Although multiple types of genome engineering are currently possible, work described in this dissertation occurred in the ...

Identifying causal variants for complex traits is a major goal of human genetics research. Despite the great success of genome-wide association studies (GWAS) in locus discovery, individual causal variants in associated ...

Tuberculosis (TB) is an infectious disease caused by the bacterium Mycobacterium tuberculosis (Mtb), which has been around for millennia and continues to affect millions of people every year. Successful TB treatment requires ...

Transposons are mobile genetic elements found in the genomes of nearly all organisms. Active transposons threaten genome integrity, and organisms have developed systems to inhibit transposon mobility. RNA interference ...

Direct and indirect point mutations and structural variants that cause haploinsufficiency of MEF2C have been implicated as causes of neurodevelopmental disorders (NDDs). However, the impact of these mutations on ...