Related Experiment Video
Updated: Aug 6, 2026
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Mito-interpreter: An online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of
Ning Zhang1, Yang Yang1, Haoyu He1
1Department of Obstetrics and Gynecology, NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, the First Affiliated Hospital of Anhui Medical University, No 218 Jixi Road, Hefei 230022, Anhui, China; Engineering Research Center of Biopreservation and Artificial Organs, Ministry of Education, No 218 Jixi Road, Hefei 230022, Anhui, China; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, No 81 Meishan Road, Hefei 230032, Anhui, China.
Abstract:
Mito-interpreter is an online tool developed to implement the ACMG/AMP standards and guidelines for mitochondrial DNA (mtDNA) variant interpretation. Manually applying these specialized guidelines is time-consuming and error-prone due to mtDNA complexities. This tool streamlines the process by systematically organizing evidence categories and integrating key data sources, including population frequencies from MITOMAP and Helix, as well as pre-computed scores from the APOGEE and expert-validated evidence from ClinGen. By automating data aggregation and rule-based logic, Mito-interpreter enables clinicians and researchers to focus on evidence evaluation, thereby enhancing efficiency and accuracy in clinical diagnostics and research. The tool is freely available at https://www.mtdna-interpreter.com.
Related Concept Videos
02:59Animal Mitochondrial Genetics
01:39Mitochondrial Protein Sorting
Most of these mitochondrial proteins are encoded by the nucleus and imported to the mitochondria as unfolded or loosely folded precursors. Mitochondrial precursors...
01:19Translocation of Proteins into the Mitochondria
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...