Sentences with phrase «damaging mutations associated»

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.»

Not exact matches

«These data show for the first time that obesity is associated with increased DNA damage in breast epithelium of BRCA mutation carriers,» lead study author Priya Bhardwaj, a Ph.D. student at Weill Cornell Medicine in New York, N.Y., and colleagues write in their abstract.

«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.

Johns Hopkins researchers say they have discovered some of the first steps in how a very common gene mutation causes the brain damage associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

A large variety of methods is used including genetic, molecular and cytogenetic techniques, fluorescence in situ hybridisation and DNA «combing», as well as high throughput sequencing approaches such as DNA - seq for mutation landscape analyses, RNA - seq for transcriptome analyses and ChIP - seq mapping of chromatin - associated proteins and their genome - wide modulation in response to DNA damages.