Low-level point heteroplasmy detection in human mitogenomes amplified with different polymerases and sequenced on MiSeq FGx platform.

Skonieczna Katarzyna Marzanna Ciesielka Grzegorz Teresiński Tomasz Grzybowski

Published in: Archiwum medycyny sadowej i kryminologii (2024)

The accuracy and sensitivity of point heteroplasmy detection with the MiSeq FGx instrument varies on polymerase used for mtDNA amplification. Therefore, it is recommended to validate the laboratory protocols used for mtDNA substitution detection prior to their implementation for the forensic or medical genetics purposes.

Keyphrases

mitochondrial dna
label free
loop mediated isothermal amplification
copy number
real time pcr
healthcare
endothelial cells
primary care
gene expression
quality improvement
patient reported outcomes