My career in human genomics has spanned three decades and began with a desire to understand how 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 human CNV maps that are routinely used for differentiating pathogenic genomic imbalances from common variants in clinical genomic tests. This discovery was acknowledged as part of the breakthrough of the year by Science Magazine in 2007 as well as the Thomson Reuter's selection of its 2014 Citation Laureates.

From 2000-2012, I led several research, educational and clinical genetics programs, in my capacity as Director of the Harvard Cancer Center Cytogenetics Core, Director of the Molecular Genetics Research Unit at Brigham and Women's Hospital, and Associate Member of The Broad Institute. In 2013, I became the inaugural Scientific Director and Professor of The Jackson Laboratory for Genomic Medicine (JAX-GM), and I oversee the scientific program and operations of the institute. At JAX-GM, my personal research program encompasses three main areas: 1) Structural Genomic Variation and 2) Cancer Genomics and 3) Clinical Genetic Testing.