Mining Genomes

摘要

The completion of the Human Genome Project in 2003 marked the most ambitious research effort in the history of life sciences: the sequencing of human DNA. However, the project, which included the participation of Lawrence Livermore biologists and computational scientists, was only the first step in understanding life at the molecular level. "The Human Genome Project gave us the sequence of the human DNA but not the manual that explains what it means," says Ivan Ovcharenko, a bioinformatics scientist in Livermore's Computation Directorate. A significant challenge remains in identifying regulatory elements (REs), which are sequences of DNA that interact with specific proteins to serve as "on-off' switches for genes. REs function in remarkably similar ways in all species, from microbes to humans. However, finding them is particularly challenging in large and complex genomes such as those of mammals. Human REs can be located directly next to the gene they control, or they can be 1-million DNA bases away, buried in a "gene desert." Gene deserts, of particular interest to many biologists, are the large and seemingly barren areas located between genes.