Mitochondrial point heteroplasmy: insights from deep-sequencing of human replicate samples.

ABSTRACT:

Background

Human mitochondrial heteroplasmy is an extensively investigated phenomenon in the context of medical diagnostics, forensic identification and molecular evolution. However, technical limitations of high-throughput sequencing hinder reliable determination of point heteroplasmies (PHPs) with minor allele frequencies (MAFs) within the noise threshold.

Results

To investigate the PHP landscape at an MAF threshold down to 0.1%, we sequenced whole mitochondrial genomes at approximately 7.700x coverage, in multiple technical and biological replicates of longitudinal blood and buccal swab samples from 11 human donors (159 libraries in total). The results obtained by two independent sequencing platforms and bioinformatics pipelines indicate distinctive PHP patterns below and

SUBMITTER: Korolija M 

PROVIDER: S-EPMC10782721 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature