Gene mutation? Gene filtering tools appeared

Although mutations always have a bad reputation, but a large number of mutations in perhaps not harmful; even in the very rare genetic disorder, only in the tens of thousands of genes in one or both mutations will actually caused diseases, and therefore distinguish harmful and beneficial mutation has been the focus of scientific research.

Scientists from Rockefeller University recently in Proceedings of the National Academy of the Sciences magazine published its latest research results, the article in which they developed a new tool designed to help predict whether a given human genes may contain promote disease mutation, the researchers hope the tool can help them a lot of genetic screening to help predict the occurrence of human diseases.

Yuval Itan researchers said, to get the first needle in a haystack also sucked seawater, while filtering out extraneous "noise" on key genes want to study clearly visible; by genomic analysis, the researchers found that 58 percent of rare mutations Located two percent of human genes, and they developed called Gene Damage Index (genetic damage index) tools can help infer, frequently mutated gene in the general population and perhaps less likely to lead to hereditary and the rarity of the disease , because these mutations in healthy individuals will frequently occur.

Such genetic damage index of tools that can help reveal a mutation occurs in the general population in the number of genes, or mutations accumulate damage, while the corresponding record the results may illustrate the importance of a particular gene on a given disease groups, such as cancer, Bangladesh Del's disease, autism and primary immune deficiency and the like. Finally, the researchers said, the use of this new tool you can weed out the 60% non-associated mutations, and genetic damage index tools will also help scientists to more easily obtain a large number of next-generation sequencing data analysis.