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Updated: Feb 10, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Translating single nucleotide polymorphism tests from clinical research to clinical practice
1DxS Ltd, 48 Grafton Street, Manchester, M13 9XX, UK. Stephen.Little@dxsgenotyping.com www.dxsgenotyping.com.
Abstract:
From the viewpoint of a research scientist the final stage of a pharmacogenomics project may be a publication demonstrating that the presence of a particular single nucleotide polymorphism influences the likelihood of responding to a particular drug treatment. Although, from a research perspective this is an end point, it is merely the start point for the process of moving the association into a fully validated and widely available pharmacodiagnostic assay. The translation from clinical research to clinical practice is a complex process involving a number of stakeholders and encompassing scientific, clinical, technological, commercial, regulatory, and educational issues.
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