The Top 10 Science Stories of 2012

A devastating storm, a new phase of Mars exploration, a recipe for a pandemic flu--these and other events highlight the year in science and technology

The Top 10 Science Stories of 2012, ENCODE Project: ENCyclopedia of DNA Elements
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Publication of the ENCODE Encyclopedia: A Milestone in Genome Research

Twelve years after the publication of the human genome sequence, a large consortium published the next step: the ENCODE Project: ENCyclopedia of DNA Elements. Whereas the genome project provided the sequence of all the nucleotides in the human DNA (how all the A’s, C’s, T’s and G’s are put in order), ENCODE goes a step further and catalogues which of those sequences can be transcribed into RNA and in which types of cells.

Just as biologists understood that the Human Genome Project is a useful tool (albeit not the "holy grail" or "blueprint of life" as touted in some media), so too did they welcome ENCODE as another useful research tool. The laboratory techniques developed by the Human Genome Project have enabled scientists to sequence—ever more inexpensively—the complete genomes of many individual humans as well as many other species. In the same vein, scientists expect that ENCODE is just a beginning, enabling them to perform the same kind of work on numerous individuals as well as on numerous species. The knowledge gained will help answer important questions about evolution, ecology, conservation, physiology, development and medicine.

Unfortunately, much of the discussion surrounding the publication of ENCODE failed to focus on the usefulness of the catalogue and the techniques that built it. Instead, much of the debate centered on the failure to understand that transcription does not necessarily imply meaningful biological function. Cells are messy biological entities, with lots of gunk and goo floating around, so mistakes happen all the time. Many DNA sequences get translated into RNA, only to have the cell degrade that RNA. Much, perhaps most, of the DNA in our genomes—despite being occasionally transcribed, and thus recorded in ENCODE—is still functionless “junk DNA.” That is actually not surprising; it is in fact expected from evolutionary theory. Thanks to ENCODE, though, we should eventually learn which sequences are the junk and which are the gems of cell activity. —Bora Zivkovic

» “Junk DNA” Holds Clues to Many Diseases
» Junk DNA, Junky PR

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