Stephanie L. Battle

Quantifying constraint in the human mitochondrial genome

The paper develops a mitochondrial constraint model applied to gnomAD data, revealing strong depletion of expected variation and identifying constrained regions in mtDNA.

Deleterious heteroplasmic mitochondrial mutations increase risk of overall and cancer-specific mortality

This study identifies that heteroplasmic mitochondrial mutations increase mortality risk and are linked to cancer incidence and outcomes, particularly leukemia.

Mitochondrial function determines severity but not risk of amyotrophic lateral sclerosis

The paper investigates how mitochondrial function affects ALS severity but not risk, identifying specific genetic and expression factors linked to disease progression.

A Bioinformatics Pipeline for Estimating Mitochondria DNA Copy Number and Heteroplasmy Levels from Whole Genome Sequencing Data

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.

Rare instances of non-random dropout with the monochrome multiplex qPCR assay for mitochondrial DNA copy number

The paper identifies specific polymorphisms in the D-loop primer region that cause non-random dropout in a monochrome multiplex qPCR assay for mitochondrial DNA copy number.

Single-cell analysis of Non-CpG methylation dynamics and gene expression in human oocyte maturation

The paper investigates non-CpG methylation dynamics and gene expression in human oocyte maturation, finding that non-CG DMRs correlate with gene expression changes and transcription factor binding.

Epigenomic and 3D genome architecture in naïve and primed human embryonic stem cell states

The paper compares epigenomic and 3D genome architecture between naive and primed human embryonic stem cells, showing differences in enhancer marking and chromatin domain organization.