Marshaling the Variome

Abstract

Larger societal problems, including international variability in standards for ethical approval, differing local frequencies of disease-causing gene variants, and differences in national research infrastructure and provision for clinical genetics, have been tackled by Cotton's last and biggest project, the Human Variome Project (HVP; http://www.humanvariomeproject. org/). [...]variants are no longer collected piecemeal from clinical laboratories but are harvested from the whole genomes of people in populations.