A GPS for Navigating DNA

摘要

A complete characterization of genetic and epigenetic variations in germ-line and somatic DNA can provide a blueprint for understanding causal relationships between genes and phenotypes, from hydrogen production in bacteria to glucose homeostasis in humans. Detecting small nucleotide differences, structural variations (such as duplications), and a range of chemical modifications to nucleic acids have pointed to variations that potentially underlie the risk of disease, disease severity, and response to treatments for specific diseases.