Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA

Background: Sequencing quality has improved over the last decade for long-reads, allowing for more accurate detection of somatic low-frequency variants. In this study, we used mixtures of mitochondrial samples with different haplogroups (i.e., a specific set of mitochondrial variants) to investigate...

Full description

Bibliographic Details
Main Authors: Theresa Lüth, Susen Schaake, Anne Grünewald, Patrick May, Joanne Trinh, Hansi Weissensteiner
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.887644/full