MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases.

ABSTRACT: Recent advances in next-generation sequencing (NGS) technology have greatly accelerated the need for efficient annotation to accurately interpret clinically relevant genetic variants in human diseases. Therefore, it is crucial to develop appropriate analytical tools to improve the interpretation of disease variants. Given the unique genetic characteristics of mitochondria, including haplogroup, heteroplasmy, and maternal inheritance, we developed a suite of variant analysis toolkits specifically designed for primary mitochondrial diseases: the Mitochondrial Missense Variant Annotation Tool (MmisAT) and the Mitochondrial Missense Variant Pathogenicity Predictor (MmisP). MmisAT can handle protein-coding variants from both nuclear DNA and mtDNA and generate 349 annotation types across six cat

SUBMITTER: Huang S 

PROVIDER: S-EPMC10683248 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature