Jessica L. Fetterman

The paper examines heteroplasmic mitochondrial genetic variants in human cardiac tissues and finds they differ from those in blood and skeletal muscle, with higher variant counts in cardiac tissue linked to age.

This paper presents a bioinformatics pipeline to estimate mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data, showing improved accuracy in capturing mitochondrial genetic features.

The paper examines the concordance and characteristics of mitochondrial heteroplasmic mutations in maternal pairs of European and African ancestry, finding higher concordance in close relatives and associations with age and nuclear genome regions.