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.
Genetic Testing of Diseases
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques
Advertisement
‘A new tool designed by scientists aims to predict whether a given human gene is likely to harbor disease-causing mutations.’
Tweet it Now
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."
Through genome analysis, the researchers found that 58% of rare genetic variants are located in only 2% of human genes. They developed their tool, the Gene Damage Index, from this observation, reasoning that genes that are frequently mutated in the general population are unlikely to cause inherited and rare diseases, because variations to these genes are often found in healthy people.
![Risk of Breast Cancer Associated With Gene Mutations]( "Risk of Breast Cancer Associated With Gene Mutations")
Women with harmful mutations of the BRCA gene have a significant risk of developing, breast cancer, ovarian cancer and certain other types of cancers according to a new study.
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
Risk of Breast Cancer Associated With Gene Mutations
Women with harmful mutations of the BRCA gene have a significant risk of developing, breast cancer, ovarian cancer and certain other types of cancers according to a new study.
Advertisement
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
Gene Mutations can Cause Obesity and Constitutive Insulin Sensitivity
Diabetes type 2 occurs when body does not produce enough insulin to control glucose level in the blood. First gene responsible for increased sensitivity to the insulin hormone discovered.
Advertisement
Association of Genetic Mutations With Intellectual DisabilityIntellectual disability is defined as a broad concept involving mental retardation and other neurodegenerative diseases. Genetic mutations are responsible for intellectual disability. | Advertisement
|
Advertisement
