My career in human genomics has spanned over 20 years and began with a simple premise of understanding more about the human genome and how seemingly insignificant variations in DNA could give rise to different traits and phenotypes. One of our notable discoveries came by way of the first description of widespread structural variants (SVs) – in the form of copy number variants (CNVs) – in the human genome. We demonstrated that large genomic changes (i.e., gains or losses of thousands-to-millions of nucleotides) are common, pervasive, and often hold important implications for understanding the genetic basis of human health and disease.
We subsequently developed two human CNV maps that serve the basis of our understanding of common structural human genomic variants and are routinely used for differentiating pathogenic genomic imbalances from common variants in clinical genomic tests. This discovery was acknowledged as the breakthrough of the year by Science Magazine in 2007 as well as Thompson Reuter’s selection of its 2014 Citation Laureates.
From 2000-2012, I led several research, educational and clinical genetics programs at Brigham and Women’s Hospital, Harvard Medical School and the Broad Institute. In 2013, I became the Scientific Director of The Jackson Laboratory for Genomic Medicine, where we develop and lead a team of world-renowned investigators with the collective goal of studying the structure and function of human genomes toward individualized treatments. At the Jackson Laboratory for Genomic Medicine, my research program encompasses two main areas: 1) Structural Genomic Variation and 2) cancer genetics and biomarkers.
HARVARD MEDICAL SCHOOL, Boston MA, USA
CAMBRIDGE UNIVERSITY, Cambridge , UK
UNIVERSITY OF ALBERTA , Alberta, Canada
Human Genome Organisation International, South Korea
Director & Professor
The Jackson Laboratory for Genomic Medicine, USA
Ewha Womans University, South Korea
Xi'An Jiaotong University, China
1000 Genomes Project