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Sensitivity for detecting variants at an observed 10% AF was 100%9595% CI = 93.2 100.0) in HapMap mixes.
This paper presents a software tool that allows the evaluation of the performance and conformance to requirements of machine structure variants at an early stage.
In this biologically relevant application, we found that the array correctly identified mutations characteristic of ribavirin's mode of action and detected drug resistant variants at an early stage.
To ascertain the relationship between the selective advantage of escape variants at an epitope and the functional CTL response to that epitope a comprehensive, published IFNg ELISpot database was analysed [35].
Secondly, further variants at an associated locus may confer additional effects independent of the primary signal (Plenge et al. 2007).
For example at the MHC locus, our method identified ~27%% of variants at an accuracy of 99.76 and 89.21 % for heterozygous and homozygous genotypes, respectively.
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BGC causes an expected change in the frequency of GC versus AT variants at a site similar to that caused by selection (Gutz & Leslie 1976).
BGC occurs when heterozygotes for GC and AT variants at a nucleotide site produce more than 50% of the GC variant in their gametes, as a result of biased repair of DNA heteroduplexes (Marais 2003).
Similar to A-FABP deficiency in experimental models, a genetic variant at A-FABP locus with reduction in A-FABP expression reduced the risk for cardiovascular disease and type 2 diabetes in a population genetic study [10].
Called Whole Genome Association, the method depends on the use of powerful chips to detect up to 500,000 genetic variants at a time.
Determining which of two variants at a given location — call them A and B — the fetus inherited from the mother was more difficult.
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