Dr. Machiela’s research is focused on understanding how inherited (germline) variation and acquired (somatic) mutations individually and jointly affect cancer risk. He is leading studies of large-scale genetic mosaicism to investigate the causes of acquired mosaic chromosomal alterations and their impact on cancer risk. He also conducts and analyzes genetic association studies to investigate the underlying genetic architecture of different cancers (e.g., pediatric and adult cancers) and identify potential germline-somatic interactions.