Internal Validation of Mitochondrial DNA Control Region Using the Precision ID mtDNA Control Region Panel.

ABSTRACT: Background/Objectives: The sequencing of mitochondrial DNA is a valuable tool in forensic genetics, particularly in cases involving degraded samples or those with low nuclear DNA content. In this study, we performed an internal validation for an NGS-based typing of the mitochondrial DNA control region using the Precision ID mtDNA Control Region Panel on the Ion S5^TM sequencer (Thermo Fisher Scientific, Waltham, MA, USA). This validation enhances the scientific robustness, reliability, and judicial admissibility of the results in forensic cases. Methods: Six parameters were evaluated: minimum read depth, sensitivity, repeatability, concordance with Sanger, reproducibility and heteroplasmy detection employing ten negative controls, nine reference samples, a bo

SUBMITTER: Lechuga-Morillas E 

PROVIDER: S-EPMC12732821 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature