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In contrast, ~50% of the mutations in KRAS are missense variants in position 12 which are expected to increase the protein function.
The level of antibody production against TEM-1 was higher for mice immunized with plasmid DNA coding for BHPs displaying STa and its variants in position 216 (loop B) than in position 195 (loop A).
As such, the increase in frequency of variants in position 2316 and 2491 reported after passage in mouse brain is suggestive of selective pressures brought about by the changes in receptor binding and membrane fusion between the central nervous system in mice and other propagation systems.
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The use of two different error rate estimates prevents according to Out et al. (2009) false-positive detection of sequence variants in positions with high local error rate (by using a high qnull) and inflated power estimates (by using a moderate estimate of b).
Variants in positions located in the miRNAs were collected for this study.
All known variants in positions covered with at least 30× depth were correctly recognized.
Variants in positions with a minimum coverage of 20 reads and a strand bias less than −100 in each of the samples were retained for further analysis.
With the exception of the variant in position -34 of CDKN2A of known functional consequence, the remaining rare variants in the non-coding region have no apparent impact on risk.
Our patient was homozygous for a polymorphic variant in position 3435 of the ABCB1 gene.
A COX-2 haplotype containing the variant allele in position -765 together with the variant allele of the T8473C polymorphism in the 3' untranslated region (UTR) has been associated with high COX-2 activity [ 41], indicating that the 3'UTR variant allele may stabilize the mRNA level.
The results were used as input for the Bioconductor [ 44] Rsamtools version 1.6.0 package to obtain the possible nucleotide variants with a cut-off coverage of 4x, a threshold of 2 variants in the position and a base call quality cut-off of the PHRED score Q20 on average, where Q = -10 log10P, and the score stands for the probability of a wrong base being called.
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CEO of Professional Science Editing for Scientists @ prosciediting.com