Chasing a moving target: Detection of mitochondrial heteroplasmy for clinical diagnostics
Eric J. White, Tristen Ross, Edgardo Lopez, Anastasia Nikiforov, Christopher R. Gault, Rebecca Batorsky, Christopher Darcy, Dean R. Campagna, Mark D. Fleming, John F. Thompson
The paper develops a method to detect mitochondrial heteroplasmy using NGS data and evaluates sources of mtDNA for clinical diagnostics.
bioRxiv · Nov 19, 2017 · PreprintGenomics