Sentence examples for technical mutation from inspiring English sources
In these 12 patients, a total of 14,144 genetic variants were automatically detected, including 21 of the 24 known mutations (Fig. 2A), resulting in a technical mutation detection rate of 87.5%.
Today, gene technology is my challenge in two ways: I try to educate people about it and I also try to develop alternatives to technical mutations of plants.
However, full BRCA1 and BRCA2 screening still remains a tedious task due to gene length, the plethora of mutations, the high frequency of BRCA1 rearrangements requiring special technical approach, and mutation spectrum differences in different populations.
This again highlights the technical challenges in mutation detection in tumour DNA.
Isolates also showed the RDoryx_1, RDoryx_4, and RDoryx_wag22 deletions and the mmpL6AAG mutation (Technical Appendix Table 1).
Furthermore, limited and degraded amounts of DNA extracted from tumour biopsies and formalin-fixed paraffin-embedded (FFPE) tissues present an inherent technical challenge in mutation detection.
The pre-publication history for this paper can be accessed here: http://www.biomedcentral.com/1471-2407/10/189/prepub We thank Justine Nuytens and Bart Matthys for their excellent technical assistance with mutation analysis, immunohistochemistry and FISH analysis.
However, errors produced by most sequencing protocols complicate distinguishing between true biological mutations and technical artifacts that confound detection of rare mutations and rare individual genome variants.
Such induced pluripotent human cell lines should be useful in the production of new disease models and in drug development, as well as for applications in transplantation medicine, once technical limitations (for example, mutation through viral integration) are eliminated.
NW carried out the technical aspects of the mutation analysis of EGFR/ERBB2.
The method used for studying this gene was selected to minimize the risk of missing a mutation for technical reasons.
