Marie T. Lott

The paper presents scMOCHA, a tool to analyze mtDNA heteroplasmy from scRNA-seq data, revealing cell type-specific mtDNA variants and disease mechanisms in hematopoietic cells.

nAPOGEE assesses pathogenicity of mitochondrial noncoding variants using machine learning, revealing consistent spatial correlation of predicted pathogenicity.

APOGEE 2 improves pathogenicity prediction for mitochondrial missense variants using a machine learning model based on ACMG/AMP guidelines and provides region-wise genome fragility assessments.

The paper identifies a mitochondrial haplogroup mutation interacting with a HDC variant to cause mitochondrial dysfunction and connective tissue disorder.

This study investigates how SARS-CoV-2 infection affects mitochondrial gene expression in different tissues and disease stages, finding targeted inhibition in some organs and upregulation in others.