Sentences with phrase «for somatic mutations»

That's why it's possible to have a very high validation rate (> 90 %) for somatic mutations in solid tumors like lung cancer.

We screened the coding sequences of 518 protein kinases (approximately 1.3 Mb of DNA per sample) for somatic mutations in 26 primary lung neoplasms and seven lung cancer cell lines.

Not exact matches

Meanwhile, recent human studies indicate that aging is associated with an increase in somatic mutations in the hematopoietic system, which gives rise to blood cells; these mutations provide a competitive growth advantage to the mutant hematopoietic cells, allowing for their clonal expansion — a process that has been shown to be associated with a greater incidence of atherosclerosis, though specifically how remains unclear.

Co-first author Alice Eunjung Lee, PhD, from the lab of Peter Park, PhD, at the Center for Biomedical Informatics at Harvard Medical School, developed the study's retrotransposon analysis tool, which detects somatic retrotransposon mutations in single - cell sequencing data.

Somatic brain mutations, affecting just pockets of cells, can be harmful, and have been suggested as a possible cause of neurodevelopmental disorders such as autism, epilepsy or intellectual disability (see this review article for further background).

«When there is mutation, there's an opportunity for selection and some somatic mutations lead to cancer,» says Tyler - Smith.

We developed SomaticSniper to detect somatic mutations in whole - genome sequencing data while allowing for tumor contamination of normal cells that occurs in some types of leukemia.

The researchers discovered a single letter variant located in TP53, a gene known to play a central role in tumor biology and for accumulating so called somatic mutations, during the development of cancer in patients.

And if it wasn't hard enough, I heard more reports of somatic mosaicism (mutations present only in certain cell or tissue types) underlying disease susceptibility, meaning that DNA from blood cells may not be informative in some patients for some diseases.

For each subject, hundreds of somatic mutations were genotyped in sAML and MDS - stage samples to characterize the clonal architecture of each tumor.

Modulating ECM assembly to alter tumor vascular barrier function Weilan Ye, Genentech Lymphangiogenesis and lymphatic endothelial barrier as targets in regenerative medicine Giorgia Jurisic, Novartis Wnt / beta - catenin signaling as a therapeutic target for blood - brain barrier repair in neurological disorders Dritan Agalliu, Columbia University Somatic mutations in hematopoietic cells contribute to cardiovascular disease: New mechanisms, new targets Kenneth Walsh, Boston University

We found 2 somatic mutations that potentially impact therapeutic decisions for this rare form of leukemia.

To investigate whether or not somatic coding mutations contributed to the different antigenicity observed between clones, the authors undertook an in silico analysis of predicted MHC class I binding affinity for each allele of missense mutations.

The Cancer, Ageing and Somatic Mutation Programme seeks to provide leadership in data aggregation and informatics innovation, developing high - throughput cellular models of cancer for genome - wide functional screens and drug testing, and exploring basic scientific questions about the role somatic mutation plays in clonal evolution, ageing and develSomatic Mutation Programme seeks to provide leadership in data aggregation and informatics innovation, developing high - throughput cellular models of cancer for genome - wide functional screens and drug testing, and exploring basic scientific questions about the role somatic mutation plays in clonal evolution, ageing and deveMutation Programme seeks to provide leadership in data aggregation and informatics innovation, developing high - throughput cellular models of cancer for genome - wide functional screens and drug testing, and exploring basic scientific questions about the role somatic mutation plays in clonal evolution, ageing and develsomatic mutation plays in clonal evolution, ageing and devemutation plays in clonal evolution, ageing and development.

Transcriptome sequencing is incredibly valuable for cancer genomics, because it offers insights into the immediate molecular effects of somatic mutations.

For each of the 10 somatic mutations, as well as 2 germline control variants, we performed PCR - targeted 454 resequencing in samples from the primary tumor, the relapse tumor, and the germline.

In other words, the expression of a somatic mutation generally reflects its purpose for the tumor: loss - of - function mutations are suppressed, but activating hotspot mutations are over-expressed.

The single - gene knockout fibroblasts were successfully used for somatic cell nuclear transfer (SCNT) and resulted in live - born goats harboring biallelic mutations.

COSMIC, the Catalogue of Somatic Mutations in Cancer (http://cancer.sanger.ac.uk) is a high - resolution resource for exploring targets and trends in the genetics of human cancer.

It should be noted that the sensitivity for calling SNPs represents an upper bound for calling somatic mutations, since the latter often display mutant allele fractions less than 50 %.

A well - known factor in the decline of stem cell function is the loss of genome integrity, for example, caused by the appearance of somatic mutations.

Using the latest version in Next - Generation Sequencing (NGS) chemistry, MyAML identifies all somatic mutations, large and small insertions / deletions and translocations under NCCN / ELN guidelines, as well as novel somatic variants that may have prognostic significance for AML.