Pyrimidine-Dependent UV-Mediated Cross-Linking Magnifies Minor Genetic or Epigenetic Changes in Clinical Samples.

Fangyan YuFarzana AhmedStavroula SmilkouSayeda Yasmin-KarimFarzaneh DarbeheshtiAthina MarkouMartyn BullockIoannis BoukovinasViktor A AdalsteinssonEvi LianidouG Mike Makrigiorgos

Published in: Clinical chemistry (2024)

PD-UVME mutation/methylation enrichment performed prior to ddPCR magnifies low-level mutations or epigenetic changes and increases sensitivity and confidence in the results. It can assist with clinical decisions that hinge on the presence of trace alterations like BRAF V600E.

Keyphrases

dna methylation
gene expression
genome wide
heavy metals
risk assessment
copy number
wild type