The Lee Lab

Our Research Focus

The research laboratory of Dr. Charles Lee at The Jackson Laboratory (JAX) for Genomic Medicine uses state-of-the-art technologies to reveal how structural genomic variation (SV) shapes human biology, evolution and disease. Ongoing studies in our group include:

1. Structural variation from population-scale, telomere-to-telomere assembled human genomes
2. Accurate identification and annotation of SVs in human and other vertebrate genomes
3. The development of new diagnostic assays and platforms for genomic medicine

Dr. Lee co-leads the Human Genome Structural Variation Consortium (HGSVC) and serves on multiple international advisory boards. He joined JAX Genomic Medicine from Harvard Medical School and Brigham and Women's Hospital, and is best known for his discovery of copy number variation (CNV), which is widespread and significant in human genomes. Throughout his career, Dr. Lee has received numerous accolades and awards for his research on human genomes, including an award from the American Association for Cancer Research and the 2008 Ho-Am Prize in Medicine. He is an elected fellow of the American Association for the Advancement of Science (AAAS), and a 2014 Thompson Reuters Citation Laureate. Recent honors include election to the Royal Society of Canada (2024) and induction as a Fellow of the Korean Academy of Science and Technology (2023).