Simon Charles Heath

EpiATLAS provides a comprehensive collection of human reference epigenomes to advance epigenomic research and understanding of cellular function and disease.

This study identifies mitochondrial dysfunction and mtDNA damage as early triggers of immune response in PM-Mito and IBM, linking mitochondrial abnormalities to inflammation and disease progression.

The paper introduces a method to identify heterogeneously methylated genomic regions using Nanopore reads by analyzing methylation patterns across multiple loci.

This paper introduces a method to sequence full-length human mitochondrial genomes using Cas9 and long-read sequencing, enabling accurate detection of heteroplasmy and deletion patterns.

DeepMP detects DNA methylation from Nanopore sequencing data using a CNN that combines signals and basecalling errors, outperforming existing methods across multiple datasets.

The paper develops a method to sequence and assemble a human Y chromosome of African origin using native DNA and nanopore sequencing, achieving high continuity and enabling epigenetic modification detection.

The paper identifies DNA methylation oscillations as a marker for enhancer classification, showing high predictive power compared to other methods.

The paper introduces GEMBS, a high-throughput processing tool for DNA methylation data from WGBS, aiming to improve efficiency for large datasets.

The paper predicts the first eigenvector of the Hi-C matrix from whole genome bisulfite sequencing data, showing that methylation variability better predicts chromatin compartments than methylation levels.

This study compares the epigenomes of neutrophils and monocytes to identify regulatory elements and chromatin states, revealing differences in enhancer activity and DNA methylation.