Evaluation of the HumanMethylationEPIC v2.0 Bead Chip Using Low Quality and Quantity DNA Samples.

ABSTRACT: The HumanMethylationEPIC v2.0 BeadChip (EPIC v2.0) microarray is a widely used tool for genome-wide DNA methylation (DNAm) analysis, designed for high-quality human DNA with a recommended input of 250 ng. However, in clinical and forensic settings, DNA samples may be of low quality and/or quantity (highly fragmented and/or available in low amounts). This study assessed the performance of the EPIC v2.0 on DNA samples with various combinations of average DNA fragment size (350, 230, 165, and 95 bp) and DNA input amount (100, 50, 20, and 10 ng), compared to a paired control sample analyzed under optimal conditions (high-quality DNA and 250 ng DNA input). The best performance was obtained for samples with average DNA fragment size of 350 bp and 100 ng DNA input (~ 90% probe detection rate, r =

SUBMITTER: Poggiali B 

PROVIDER: S-EPMC12369268 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature