SG-ADVISER

SG-ADVISER mtDNA provides comprehensive analysis of mitochondrial DNA (mtDNA) variants from next-generation sequencing (NGS) data by leveraging MToolBox-derived algorithms for assembly, heteroplasmy estimation, haplogroup assignment, variant annotation, and prioritization to support studies of mitochondrial genetics, aging, and disease.

Key Features:

• Mitochondrial genome assembly: Assembles mitochondrial genomes from NGS data using MToolBox-derived methods.
• Heteroplasmy quantification: Determines heteroplasmic fractions for mtDNA variants.
• Haplogroup assignment: Assigns mitochondrial haplogroups to samples.
• Variant annotation and prioritization: Provides functional annotation and prioritization analyses of mitochondrial variants.
• Data integration with MToolBox: Integrates and enables comparison of mtDNA annotations obtained via the MToolBox platform.
• Validation with cohort data: Tested on unpublished data from a cohort of 200 healthy aging individuals (Erikson et al., Cell, 2016) with reported observations on heteroplasmic variants in older populations.

Scientific Applications:

• Mitochondrial genetics: Analysis of mtDNA variation and its genetic context from NGS experiments.
• Aging research: Investigation of heteroplasmy dynamics and age-related changes in mitochondrial DNA.
• Disease studies: Support for research into sudden death and rare genetic disorders involving mtDNA variants.

Methodology:

Integrates MToolBox algorithms to perform mitochondrial genome assembly, heteroplasmy assessment, haplogroup determination, variant calling, annotation, and functional impact prediction from NGS data.