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Even a single such read is almost always sufficient to merit the validation a variant, provided that sufficient control samples are used.
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In particular, familial segregation of a phenotype with a variant provides evidence of pathogenicity that is independent of the predictors in our models.
One possible reason for this is that heteroplasmy (variation among different organelle genomes within the same individual) may be maintained for many generations, after the origin by mutation of a new variant, provided that there is not a very small bottleneck in the number of organelle genomes during transmission from parent to offspring (reviewed by Birky 1991).
172, 173 Vaccination with a nontoxic a-toxin variant provides protection against staphylococcal pneumonia and skin infection.
Moreover, the increased expression variability conferred by this natural yeast promoter variant provided a clear benefit in the face of an environmental stress.
If the minor slow exchange state of FKBP12 corresponds to the transition of the Gly peptide linkage to a cis configuration, the crystal structure of the G89P variant provides a ready explanation for how the H87V substitution for FKBP12 might suppress this transition.
Our variant provides a better accuracy than the traditional Hausdorff Distance, while presenting linear complexity.
This variant provides a tractable model for understanding and designing protein β-sheets.
S52P TTR variant provides a unique model for elucidation of the pathway of TTR amyloidogenesis primed by proteolytic cleavage of the 48 49 peptide bond.
As Ig1 is required for both Robo2's pro-crossing activity and for its repulsive signaling output, the Robo2ΔIg2 variant provides a more specific reagent for testing our model.
Although rare (minor allele frequency < 0.05), this variant provides an additional, independent functional SNP that may regulate LPL levels.
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