Sentence examples for mutations to further from inspiring English sources

Moreover, this study highlights the importance of functionally testing human disease mutations to further elucidate their underlying pathophysiology in disease.

Such individuals can be tested for the common mutations to further refine their risk for having a child with Pompe disease.

However, additional rounds of evolution, starting with variants containing fewer mutations, could stabilize the protein and allow the introduction of more mutations to further improve function.

Subsequently, nonsynonymous variations which were predicted as deleterious mutation in at least two of three in silico analyses were recruited and identical comparisons were performed again between patients with deleterious mutations and those without deleterious mutations to further evaluate the clinical relevance of deleterious mutations in DNMT3A gene.

Nevertheless, the analyses have provided a level of characterization of mutational processes in cancer that was previously impossible and illustrate the power of whole cancer genome sequences, yielding essentially complete catalogs of somatic mutations, to further understanding of mechanisms of DNA damage and repair.

This work reveals a variety of new recurrent candidate oncogene mutations to be further scrutinised as potential therapeutic targets.

We are continuing to analyse the remaining ten patients with this histological subtype for PGRN mutations to provide further support for this viewpoint.

There may also be the potential to use combination therapy in patients who are heterozygous for Phe508del/Gly551Asp CFTR mutations to build further on the benefits associated with ivacaftor monotherapy.

We sought to ascertain the prevalence of PALB2 mutations in these women due to the high estimated breast cancer risk associated with at least some PALB2 mutations and to further consider if clinical testing for these mutations is warranted.

This filter was implemented to separate causal from bystander mutations and to further diminish the effects of sequencing errors.

There is thus a need to accurately determine the UK carrier rate for GJB2 mutations and to further investigate the audiological profile of carriers within a population to determine whether previously found differences in hearing and OAE in adults are present in childhood.