It has been suggested that the increased frequency of unilateral Rb and non-penetrance in carriers of large contiguous deletions com- pared with patients with intragenic loss-of-function mutations is a consequence of a reduced spectrum of effective second mutations.2 In a patient with a deletion,...
Feature density and definition of centromere Density as number of genic base pairs per 100 kb was computed for each chromosome. A genic base pair is one that occurred within the gene feature coordinates of the TAIR10 [54] annotation. A spline was constructed using R’s smooth.spline function ...
CPIC gene-specific tables of allele definitions, functionality, phenotype, and frequency (downloaded on 17 September 2017) were used to first detect the pair of particular alleles for each gene and sample, and then estimate the corresponding phenotype. Of the 356 variants in the CPIC tables used...
The frequency distribution of N obtained by simulating 1000 mouse F2 populations. Mouse F2 values present the exact same genetic map size as the opossum F2. Note the higher average N of opossums when compared to the mouse F2 simulations. Open in new tabDownload slide ...
, who pointed out that the correlation between the Beijing genotype and resistance could indeed be explained by a higher mutation frequency (21). Not surprisingly, resistance against anti-TB drugs is especially a major problem in former Soviet Union States, China, and South Africa, where the ...
For binary outcomes, when crude data were reported without any p-value for the statistical analysis, we constructed the frequency table and calculated the p-value for Chi-Square test. P-values <0.05 were considered statistically significant, unless specified. Chi-Square test was performed using SAS...
(Supplementary Fig.5a). Echolocating bats and whales share amino acid substitutions in the hearing-related motor protein prestin to enable high-frequency hearing22,23(Supplementary Fig.5b). An extensive molecular convergence occurred in the mitochondrial genomes of agamid lizards and snakes, presumably ...
ing contigs were characterized using tetranucleotide Besides the MGIs in both strains using the frequency correlation and %GC into Sphingobium genomes were further analyzed for foreign genes related bins, which were then reassembled. This using DNA composition characteristics via SIGI- 'meta-Sphingobium'...
Figure 4. Association between CD158b monoKIR NK-cell frequency and donor HLA-C ligands. The percentages of CD158b monoKIR NK cells among total or CD158b+ NK cells were determined in (A) 40 healthy subjects (C1/C1: n = 14, C1/C2: n = 14, C2/C2: n = 12) and in (B) 26 ...
Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA. Advances in experimental medicine and biology. 2006; 572:15-20....