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Degradation of damaged DNA molecules to avoid mutation is feasible for the high-genome-copy cytoplasmic organelles, but not for the diploid nucleus.
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In this international series, we report that lung transplantation for IPF patients with telomerase mutations is feasible, and can at times be associated with reasonable survival.
However, a variation is feasible.
Rapid cross-validation of detected mutations was feasible by different NGS technologies with very high concordance using paraffin tissue.
Large scale mutation detection is feasible using GBS as we have identified nearly five times larger number of genes than that of previous studies [ 23].
Prenatal diagnostic testing by mutation analysis is feasible, it allows for confirmation of the biochemical assay and the absence of contamination of chorionic villus samples, and offers advantages over biochemical methods, if the proband's mutation has been identified.
Nordström et al. [ 39] furthermore demonstrated that mutation identification is feasible even without relying on any kind of recombination by searching for common genes that are disrupted in two different mutants with the same phenotype derived from the same mutagenesis screen.
The results of the current study demonstrated that serial monitoring of EGFR mutations in plasma DNA is feasible and may allow for the early detection of resistance mutations.
In conclusion, we demonstrate that the sensitive detection of single molecule mutations in clinical specimens is feasible by SP-PCR.
For clinical purposes, a simple detection of mutations in a sample is feasible compared with the broad quantitative range that cfDNA measurement provides and makes a clinical application difficult.
Using target capture/deep MPS data and normalized mean coverage per individual exon, we have shown that concurrent detection of point mutations and exonic deletions is feasible; this approach significantly improves diagnostic procedures and yields in a single assay with high sensitivity and specificity.
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