John Lane

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

The paper uses bidirectional Mendelian randomization to show LTL lengthening increases CHIP risk, while CHIP accelerates LTL shortening, with modest mediation between CHIP and CAD via LTL.

This study identifies 100 loci associated with mitochondrial DNA copy number and finds causal links between mitochondrial function and mortality.

This study identifies 59 sentinel variants and two novel genes associated with telomere length using whole genome sequences from 109,122 trans-ethnic individuals.

This study identifies CpGs associated with mtDNA-CN and shows they influence disease-related phenotypes through nDNA methylation and gene expression changes.

This study investigates the association between mitochondrial DNA copy number and risk of atrial fibrillation in three cohorts, finding an inverse relationship after adjustment for traditional risk factors.

This study evaluates methods for estimating mitochondrial DNA copy number, finding that whole genome sequencing provides more accurate associations with known correlates than qPCR or microarray platforms.