Abstract
The sequencing of the human genome has taught us that the majority of our genetic differences are made up of extra pages, missing pages and/or pages whose order is altered in our " encyclopedia of life ". These variations in the architecture of our genome have a major influence on our phenotype. We'll see how large variants are deleterious enough to be enriched in clinical cohorts, but not so deleterious as to be absent from population cohorts. We'll discuss their ability to modulate traits via variable expressivity and direct and indirect pleiotropy.
