Sentence examples for mutations from large from inspiring English sources

Altogether, mutations from large deletions to a single nucleotide were detected in all strains analysed.

Results: Here we present a novel statistical approach for calling mutations from large cohorts of deeply resequenced cancer genes.

Here, we set out to (1) empirically estimate the burden of private mutations from large samples of individuals of European ancestry, (2) compare these estimates with predictions of previously proposed demographic models with and without a recent epoch of exponential growth [ 3, 10], and (3) contrast SNVs of different functions that are expected to have undergone different selective effects.

Somatic mutations from large-scale systematic cancer screens are curated in COSMIC to include studies on glioblastoma multiforme, breast, colorectal and lung cancer (6 9).

These filtering results for the 1000Genomes project data show that our system is capable of detecting candidate disease causing mutations from large-scale WGS projects in just a matter of seconds.

Moreover, in absence of any convincing data on the prognostic role of EGFR FISH or EGFR mutations, results from large phase III trials suggest that patients with clinical or biological predictors for TKI sensitivity survive longer when exposed to standard chemotherapy, a relevant aspect that should be considered in designing clinical trials.

In fact, such mutations, ranging from large chromosomal changes (Jacobs et al., 2012; Laurie et al., 2012) to nucleotide substitutions (Busque et al., 2012), have been found to drive clonal hemopoiesis in some individuals.

VHL is also subject to extensive Alu-Alu recombination, with almost a third of its germline mutations resulting from large deletions, and 90% of the mapped events involving Alu-Alu NAHR [ 45].

A major challenge of such studies is discriminating true mutations from the large number of possible sequence alterations identified.

In particular, distinguishing the causative "driver" mutations from the large number of harmless "passenger" mutations requires many hypotheses to be formulated and tested based on integrative analysis of existing data.

This complicates the statistical challenges of distinguishing causal driver mutations from a large number of passenger mutations that are not directly contributing to the cancer phenotype of the cells.