Sentences with word «mutational»

Signatures of mutational processes in human cancer.

In vivo mutational analysis of this nucleotide indicates that it has an essential role in ribosomal function.

Laddha SV, Ganesan S, Chan CS, White E. Mutational landscape of the essential autophagy gene BECN1 in human cancers.

«The big message,» says Coukos, «is that future cell - based therapies can be envisioned for low mutational load tumors and should prioritize the use of TILs over T cells collected from peripheral blood.

Next generation sequencing has enabled systematic discovery of mutational spectra in cancer samples.

In 2016, the FDA expanded the approval to include treating melanoma regardless of mutational status.

New mutational patterns in gastrointestinal tract cancers (University of Helsinki, Karolinska Institutet)

If we could snatch this one tool out of the hands of cancers, we would cause any and all the aspiring cancers we developed to fizzle out before they became life - threatening — indeed, before many of them even became actual cancers, because they wouldn't get the opportunity to undergo the full spectrum of mutational events needed to give rise to the kind of renegade cell that can truly pose a threat to the body.

One of the most striking genetic features of mucosal melanoma is its relatively low mutational burden compared with cutaneous disease.

We found that the robustness of the gene networks of the early organogenesis stage against mutational changes is surprisingly low.

Indeed, early attempts at such biological annotation of genomic regions began in the 1980s and provided some of the first indications that the number of transcription units would greatly exceeded the number of genes that could be identified by mutational analysis (Bossy et al., 1984).

Taken together, these results support the utility of VarScan for variant detection in next - gen sequencing, and demonstrate the feasibility of large - scale mutational profiling by deep resequencing of pooled samples.

These authors used mutational analysis to show that the hydrophobic side of this AH is the part of the Ire1p involved in sensing problems in the ER membrane.

Detecting coevolving amino acid sites using Bayesian mutational mapping Dimmic, M. W., M. J. Hubisz, C. D. Bustamante, and R. Nielsen.

His talk covered three very different applications of next - generation sequencing: high - throughput mutational studies of core promoters, sub-assembly of Illumina reads to 454 - length contigs, and exome capture to unravel Mendelian disorders.

Jiang said currently - understood mutational mechanisms do not explain how they arose.

She completed her doctoral work at the Bulgarian Academy of Sciences in 1998, focusing on Mutational Genetics.

The largest - ever study to sequence the whole genomes of breast cancers has uncovered five new genes associated with the disease and 13 new mutational signatures that influence tumour development.

In the majority of cases, UV damage leaves a unique mutational footprint behind and as a result unstoppable cell proliferation is induced.

Extending our knowledge on the origin of these processes could help us discover new risk factors to reduce the incidence of cancer, and could also put us in a better position to create drugs to target cancer - specific mutational processes directly.»

Reported in Nature, the study will help researchers understand mutational processes, and may allow them to target cancer - specific processes for prevention or treatment.

These retroviral insertions may sometimes benefit the human host and therefore be protected from mutational degeneration [55].

By studying the patterns of mutations from individual healthy and tumour cells, we can learn what mutational processes have occurred, and then look to see what has caused them.

These kinds of interaction effects determine what mutational pathways are open and available for evolution.»

A study of a million people going back to 1670 shows that selection is still weeding out bad mutations and helping us avoid mutational meltdown

The clonal and mutational evolution spectrum of primary triple - negative breast cancers.

One can look at the numbers for mutational damage in old cells and it sounds fairly horrific out of context, but everything irelated cells and cellular biochemistry involves huge numbers.

In this study, we utilized patterns of mutagenesis known as mutational signatures, which are imprints of the mutagenic processes associated with MMR deficiency, to identify MMR - deficient breast tumors from a whole - genome sequencing dataset comprising a cohort of 640 patients.

They are of high interest for the study of complex diseases that have no clear mutational cause,» said Yamashita, who added the alanine threonine substitution was a rare variant.

The scientific paper entitled «Mutational interference mapping experiment (MIME) for studying RNA structure and function» was published in Nature Methods.

Exome sequencing revealed that the parental lines (d42m1, H31m1), escape tumors (es1, es2, es3), eliminated clones (T1, T2, T9), and growth clones (T3, T10) all bore similar mutational loads:

Although increased hormone receptor negativity in RT - associated breast cancer could appear to limit therapeutic options, the unique mutational profile of RT - associated breast cancers could also potentially confer susceptibility to certain therapies.

Therefore, we sequenced the whole exomes of 98 HCCs from two hospitals in Taiwan and found that 78 % showed the distinctive mutational signature of AA exposure, accounting for most of the nonsilent mutations in known cancer driver genes.

Once an LGT has occurred, it will either degrade through mutational processes (deletions and mutations) or, in some cases, evolve into a functional gene.

Dr Sophie Roerink, joint first author from the Wellcome Sanger Institute, said: «We found mutational processes in these cancer cells that are just not seen in normal cells, leading to a huge increase in mutation rate for tumours compared with normal cells.

Detecting coevolving amino acid sites using Bayesian mutational mapping.

We've been developing tools that go beyond simple recurrence and look at mutational patterns that can give insight into the significance and functional role of mutations.

Costs and Benefits of Mutational Robustness in RNA Viruses Stern, A., S. Bianco, M. T. Yeh, C. Wright et al. 2014.

conduct computational meta - analyses on large, aggregated cancer genome data sets to identify the long tail of infrequently mutated cancer genes, to characterise mutational signatures and to inform on the evolution of cancer cell clones.

«In addition, we validate haploid - specific, diploid - specific and shared mutational targets by reconstruction.»

The properties of Rubisco may potentially be improved by observing natural variation in its amino acid sequence and biochemical properties, or by performing mutational analysis.

The DT40 cell clone used expresses an inducible form of the Cre recombinase (a MerCreMer fusion protein) in order to excise the floxed AID and thereby stop mutational activity if desired.

There might have to have been a number of such mutational / environmental shifts on the path to true humanity.