Gene mutation screening tool available, will reveal the mystery of genetic disease!

Guided by public opinion, for gene mutation, people always talk about the discoloration. In fact, the vast majority of human genetic mutations are harmless, even in the hereditary disease, which is also due to pathogenic mutations showed only 1-2 genes only. Therefore, how to carry out targeted etiology research, how to distinguish between harmful and harmless gene mutation, it has been a serious challenge facing scientists.

Recently, scientists from Rockefeller University, St. Giles human infectious diseases Genetics Laboratory invented a new type of genetic screening tool Gene Damage Index, used to predict the likelihood of certain human genes causative mutations, to aid researchers screening and pathogenic mutations due to independent information from a large number of genes. Without this aid, the difficulty of screening comparable needle in a haystack, and the results are likely to deviate from the scientific truth. At present, the details of the screening tool has been published in "PNAS" (Proceedings of the National Academy of Sciences) magazine.

Gene Damage Index mainly on a gene mutation rate in the human gene pool, or the "cumulative mutations damage", but also by calculating a gene in a specific disease areas, such as Mendelian diseases, cancer, autism and primary Immunodeficiency Disease contribution to measure its pathogenic significance.

Through genomic analysis, researchers have found that 58% of rare genetic variation is only 2% of human genes detected. St. Giles Laboratory research team used this tool to detect some of the high mutation rate of the gene in healthy volunteers and in patients with genetic, whereby they infer these high mutation rate is not a genetic disease or a rare genetic disease etiology true.

Yuval Itan author of the study, said the use of Gene Damage Index screening tool, we will be able to effectively eliminate 60% of non-correlation between genetic variation and help the next generation of researchers from the vast gene sequences more quickly and effectively identify genes associated with genetic diseases mutation.