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Here, we present evidence that specific ankyrin-B variants represent a new example of balanced variants in humans.
Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants.
The low representation of the epitope peptide sequences and their high number of variants represent a major issue for the development of an effective HIV vaccine.
Such complex variants represent a substantial source of genetic diversity.
It is therefore likely that the two variants represent a common associated (protective) haplotype.
Interestingly, the 10 missed variants represent a single common SNP (MYO7A 4755T>C) seen in 10 different arrays.
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In these projects, samples were sequenced to a very high mean coverage on different sequencing platforms and the reported variants represent an intersection of technical replicates and independent analysis pipelines.
Genomic structural alterations that vary within species, known as large copy number variants, represent an unanticipated and abundant source of genetic diversity that associates with variation in gene expression and susceptibility to disease.
However, providing definitive evidence that any of these variants represents a true susceptibility allele is limited by the sample size and consequently the statistical power to identify risk alleles for which the effect size is likely to be small.
Instead, our knowledge of the substrate specificity has largely been based on alignment and comparison of naturally occurring processing sites of TEVp as well as cleavage analysis of substrate variants representing a relatively limited set of amino acid replacements at relevant positions within the TEVp substrate consensus sequence, ENLYFQG [25], [26].
Emergence of diabetes-associated genetic variants represents a powerful tool for improving our understanding of the pathogenesis of diabetes.
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