Sentence examples for mutation the availability from inspiring English sources

With respect to asymptomatic relatives of an EOFAD case with a pathogenic mutation, the availability of genetic testing and counselling creates both advances and dilemmas.

Although we could not demonstrate that the most promising rare variant represents a pathogenic mutation, the availability of whole-genome sequencing data allowed us to delineate a shared haplotype of 22.7 Mb tagged by this rare coding variant.

We are not aware of any other genetic testing centres in the United Kingdom undertaking mtDNA heteroplasmy assessment and although it is possible that other centres have performed prenatal assessment for nuclear mutations, the availability of a free nationally commissioned service makes this somewhat unlikely.

If the response to a therapeutic agent depends on the presence or absence of a particular DNA mutation, then the availability of tumour-derived DNA for mutation analysis becomes critically important.

The identification of such driver mutations and the availability of novel drugs capable of targeting signaling pathways activated by genetic derangements has led to hypothesize the possibility to treat patients based on their genomic profile (Table  1).

The frequency-based approaches reviewed above are contingent upon either an assumption of a background mutation rate or the availability of a large number of mutations in the dataset to calculate an empirical background mutation rate for the sample of interest.

Rates of antibiotic resistance in Pseudomonas aeruginosa isolates from intensive care unit (ICU) patients are expected to be dependent on the selection of resistance mutations during therapy, the availability of exogenous resistance determinants and their dissemination potential, and the efficiency of transmission of the resistant strains.

The relationship between the clinical severity of OI and the causative mutations is only partially understood, despite the availability of mutation sequences from >800 individuals with OI (5).

Besides, mutation collision avoidance based on network fingerprinting is designed to eliminate mutation collision, thus improving the availability of the proposed method.

Next, we applied it to a practical cancer mutation dataset and explored the availability of our method.

Interestingly, only 12 genes responded oppositely under aerobic and anaerobic conditions while the majority of 1009 genes responded to the arcA mutation are irrespective to the availability of oxygen.