Related Experiment Video
Updated: May 23, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Targeted next-generation sequencing expands the spectrum of mitochondrial disorders
1Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.
Abstract:
Next-generation sequencing has become a powerful tool for testing genetically and clinically heterogeneous conditions such as mitochondrial disorders. A recent study published in Science Translational Medicine underscores the considerable clinical benefits of targeted next-generation sequencing for the diagnosis of mitochondrial disorders. The findings also suggest that the genetic heterogeneity that can result in mitochondrial disease appears much broader than previously thought.
Related Concept Videos
Animal Mitochondrial Genetics
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Modern Molecular Taxonomy

