Sentences with phrase «damaging mutations»

They then identified damaging mutations in the children that would disable the protein produced by a particular gene or alter the protein's function.

This unique signature could serve as an ideal model to study the effect of demographic processes on human genetic diversity, including the identification of possibly damaging mutations associated with population - specific diseases.

Such regions are often under negative selection for damaging mutations, meaning that variants should be exceedingly rare.

My main concern is the potentially damaging mutations evolution has left us with.

According to Dr. Philip Awadalla, senior author and principal investigator, «the fact that two very close populations (French versus French Canadians) accumulate such an excess of differences in rare variants has important consequences in the design of genetic studies, including the identification of possibly damaging mutations associated with diseases specific to this population.»

The team sequenced the entire exome in the siblings and parents and found damaging mutations in ESRP1, with associated hearing loss.

But the enzymes can also latch onto the cell's own DNA and cause damaging mutations, potentially leading to and exacerbating cancers.

«It is important to determine more precisely the risks associated with damaging mutations in each of these genes so as to incorporate them most effectively into clinical care,» Dr. Walsh said.

Of the 191 resolved families, 35 % (66) carried inherited, damaging mutations in BRCA1 or BRCA2 that were not detected by commercial sequencing.

The 191 resolved families were found to harbor 149 different inherited, damaging mutations in 18 distinct genes.

In the remaining families resolved by BROCA, 65 % (125) carried inherited, damaging mutations in genes other than BRCA1 or BRCA2 that also have been associated with breast cancer.

«These damaging mutations might have some unexpected functional consequence when we're looking at the clinical applications.»

Approximately 2 % of early MI cases harbour a rare, damaging mutation in LDLR; this estimate is similar to one made more than 40 years ago using an analysis of total cholesterol.