The accurate diagnosis of XLA occasionally requires BTK mutational analysis that identifies mutations, which may reside in any domain of the gene [ 27].
This trial design is in response to the recent appreciation that certain driver mutations which may be common in a particular tumor type are mutated in other diseases at low frequency (< 10%).
A significant concern in the application of GE tools is the occurrence of 'off-target' activity and induced mutations, which may impede functional analysis and gene activity studies.
High level of ROS in nasal polyp tissue may contribute to development of mtDNA mutations, which may play a crucial role in the vicious cycle of pathophysiology of nasal polyps.
Introns rapidly accumulate mutations, which may be used as selectively neutral nuclear genetic marker complementing microsatellite and mitochondrial DNAs.
In non-fermenting GNB such as Pseudomonas aeruginosa, Acinetobacter baumannii and Stenotrophomonas maltophilia, multidrug resistance may emerge following the sole occurrence of sequential chromosomal mutations, which may lead to the overproduction of intrinsic beta-lactamases, hyper-expression of efflux pumps, target modifications and permeability alterations.
With sufficient sequencing depth, tumor-specific mutations, which may contribute to pathogenesis, can be detected.
Notably, we did not identify a dominant signature associated with BRAF kinase mutations which may be reflective of the relative infrequency of wildtype BRAF in these cell lines.
Amplification of bulk samples will only show the most abundant mutations which may or may not play a significant role in disease development under mutational load conditions.
In the negative clonal selection model (case 4), I introduce the input parameter NRFLN-D (Nreduced fitness loci net-dominant), which is an indicator of the vulnerability of the genome to mutations which may reduce cellular fitness [17].
This may be due to experimental variability, such as differences in growth or screening conditions when measuring the strains carrying either single or double mutations, which may be beyond the capacity of the standard data pre-processing but can be normalized by the sequential approximation procedure.
