Paul W. Hook

The paper shows that human centromeres and neocentromeres evolve epigenetically, with instability linked to loss of heterochromatin boundaries and CENP-A overexpression.

The paper shows CTCF controls chromatin boundary permeability through a dynamic conformational ensemble, not static occupancy, influencing cohesin capture probabilities.

This study uses single-cell long-read sequencing to profile experience-induced gene and isoform expression in mouse hippocampal cells, identifying 1,266 experience-variable isoforms.

Uncalled4 improves nanopore signal alignment for DNA and RNA modification detection, identifying more modifications than existing tools in human cell lines.

The paper introduces a new soft decoder for nanopore sequencing that improves throughput and read density while maintaining low error rates for DNA and RNA.

The paper presents the complete sequence of a human Y chromosome, correcting errors in the GRCh38 reference and adding over 30 million base pairs.

This study evaluates the mouse neural precursor cell line SN4741 as a proxy for midbrain dopaminergic neurons using genomic techniques and finds it lacks key dopaminergic markers and chromatin features.

The paper introduces modbamtools, a tool for analyzing single-molecule epigenetic data, enabling visualization, manipulation, and downstream analysis of base modifications in long-read sequencing data.

The paper uses a complete human genome assembly to analyze epigenetic patterns in previously uncharacterized genomic regions, revealing methylation and chromatin accessibility features in satellite DNA and centromeres.

The paper uses mouse chromatin data to identify heritability enrichment in schizophrenia and other diseases, revealing contributions from specific cortical layers and cell types.

The paper identifies Parkinson's risk variants in a SNCA enhancer by analyzing open chromatin in mouse dopamine neurons and validates their function in zebrafish and mice.

The paper uses single-cell RNA-seq to identify candidate genes for sporadic Parkinson’s disease by comparing DA neuron subpopulations and integrating with GWAS data.