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Mito-interpreter: An online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of mitochondrial DNA variants.

Mitochondrion - 1 Nov 2026

Zhang Ning, Yang Yang, He Haoyu, Wang Qihan, Ji Dongmei

Abstract excerpt

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...

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Topics

DNA, Mitochondrial
Humans
Genetic Variation
Internet
Software

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 42486175
DOI: 10.1016/j.mito.2026.102194

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