The validation of such a significant quantity of variants may not be feasible, for example, in certain types of cancer, in instances where the genomic mutational load is high and only manual annotation is performed.
However due to a combination of (1) the quantity of variants identified and (2) the requirement for large numbers of genotyped individuals to attain sufficient power in the association analysis renders this a costly approach.
Adoption of VEP's offline cache files enables our service to annotate large quantities of variants without exceeding HTTP time-outs.
For bioinformaticians who usually have large quantities of variants to annotate and predict, a tool that can conduct 'batch' analysis is preferable (e.g., NetGene2, GENSCAN, GeneSplicer, MaxEntScan, and SplicePredictor have this option).
The measurement of three major splice variants of survivin showed that the proportional composition between survivin-WT and survivin-2B or survivin-ΔEx3 rather than the quantity of individual variants in leukocytes of peripheral blood (peripheral blood mononuclear cells (PBMCs)) and bone marrow (BM) is clinically important.
Pyrosequencing directly on clinical material allows the measurement of relative quantities of viral variants without introducing errors inherent in viral culture, which is known to favor the growth of H275Y mutants (6 ).
However, these assays require expression and purification of recombinant MMR proteins (Nystrom-Lahti et al, 2002; Heinen et al, 2002), and although MMR repair in vitro may be deemed normal when sufficient quantities of the variant protein is used, some variants are poorly expressed, suggesting that the cellular levels of the variant may be lower (Kariola et al, 2002).
Percent alternatively spliced mRNA was calculated as the quantity of the splice variant divided by the quantity of the total transcripts per gene, e.g., 100× HMGCR13 divided by [HMGCR13 + HMGCR13].
In principle, it is possible to determine the absolute quantity of every RNA variant in a cell population, and directly compare results between experiments.
We also found that the proportional composition between the anti-apoptotic survivin-WT and pro-apoptotic survivin-2B and survivin-ΔEx3 rather than the quantity of the individual splice variants was of clinical relevance in RA.
Each LuxI homolog produces predominantly a single AHL variant, along with smaller quantities of closely related variants [19].
