Sentence examples for contributed mutation from inspiring English sources
Conventionally, most studies of human inherited disease that have contributed mutation data to HGMD have sought to identify a disease genotype, given a clinical phenotype (Cooper et al. 2010).
Examination of the domain landscape also revealed instances where all the genes contributed mutations relatively equally to the domain, and where only one or two genes contributed the majority of mutations.
We develop a simple population genetic model of disease susceptibility and evaluate it using a biologically plausible empirically based distribution of fitness effects among contributing mutations.
Even for a single condition, full knowledge of the fitness landscape is, however, unrealistic, because the number of combinations grows exponentially with the number of contributing mutations.
There is considerable heterogeneity in LDL-C levels among HoFH patients (Fig. 3) resulting from the large number of contributing mutations and their effects on LDL-C metabolism [ 6, 16– 23].
Thus, understanding the process of evolution on adaptive landscapes requires detailed knowledge of both the trajectory of the evolving populations and the fitness effects of the contributing mutations, but acquiring these data is not feasible in most systems.
The reprogramming process itself can contribute to mutation rates: nuclear genomic mutations arise during reprogramming and are selected against during subsequent culture (Hussein et al., 2011).
The second process has a high proportion of C G > A T mutations while contributing 1,500 mutations.
Among 13 patients with drug resistance, 5 (38%) had mutations contributed to only NRTI resistance; 1 (8%) had mutations contributed to only NNRTI resistance; and 7 (54%) patients had mutations contributed to both NRTI and NNRTI resistance.
DNA sequencing of the mutant targets revealed that deletional mutations contributed an increasingly high percentage (up to 27%) of all mutations in cells as the dose was increased from 0.5 to 2 Gy.
