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Updated: May 22, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
PNA HyBeacons for analysis of human mutations related to statin-induced myopathy
Nittaya Gale1, Petr Kocalka, Charlotte Mardle
1School of Chemistry, University of Southampton, Southampton, UK.
Abstract:
Aminoalkyl and alkyne-tagged PNA HyBeacons have been synthesized, labeled with fluorescein via conventional amide bond or triazole formation (click chemistry) and used to detect single nucleotide polymorphisms (SNPs) implicated in statin-induced myopathy. The PNA HyBeacons gave much better mismatch/mutant discrimination than conventional DNA HyBeacons but smaller fluorescence changes on melting.
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