
Distinguishing between harmful and harmless mutations has long been a challenge. Despite their bad reputations, the vast majority of mutations are not harmful. Even in very rare genetic disorders, only one or two genetic variations - out of tens of thousands - is actually the cause of disease.
A new tool, developed by scientists in Jean-Laurent Casanova's St. Giles Laboratory of Human Genetics of Infectious Diseases at Rockefeller University aims to predict whether a given human gene is likely to harbor disease-causing mutations. The hope is that their tool, described the Proceedings of the National Academy of Sciences this fall, will help researchers who work with genetic data filter out genes that are irrelevant.
Yuval Itan, the study's senior author, said, "To find a needle in the haystack, it helps to get rid of some of the hay. Filtering out the noise, the genes that pollute the data, is crucial."
The Gene Damage Index metric takes into account how much the gene is mutated in the general population, or the 'accumulated mutational damage'. The calculation also includes how important a given gene is to a specific disease group, including Mendelian disorders, cancer, autism, and primary immunodeficiencies.
Itan explains, "With this method, up to 60% of the irrelevant variants can be removed. The Gene Damage Index will help scientists more easily sort through the large amounts of data produced by next-generation sequencing."
Source: Newswise
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