Scientists devise novel, low-cost method of sifting genome's high-value regions

The new technology, called selective resequencing, promises to be a boon to many kinds of research, including efforts to comb vast stretches of the genome for mutant genes implicated in major diseases such as cancer and schizophrenia.

A team led by CSHL’s Gregory Hannon, Ph.D. a molecular and cell biologist, and W. Richard McCombie, Ph.D., a molecular biologist who heads the Laboratory’s gene sequencing center, sought an efficient way of separating what’s most valuable in the genome from less important stretches of genomic “code.” In all, there are over 3 billion “letters” of code in the human genome, only 2 percent of which actually instructs cells to produce proteins, the workhorses of all life processes.

CSHL’s new method is innovative because it enables genome scientists to save significant time and labor by capturing and then sequencing, or “spelling out,” genomic code culled from relatively small, focused areas as opposed to sequencing the entire genome and only afterward honing in on areas of interest.

“In practical terms, this means that a new world of discovery is opening to scientists interested in studying the genomes of large groups of people on a comparative basis which is a prime basis for our insights about gene mutations that cause disease,” said Dr. Hannon.

Dr. McCombie added: “By enabling scientists to target a small fraction of the genome, our method makes it possible for people with interesting ideas, to do significant work, on a modest budget. This will afford researchers the opportunity to include enough samples to conduct truly meaningful genome-wide comparative studies.”

Cold Spring Harbor Laboratory