Edward D. Esplin

Elective genomic sequencing for adults in research, clinical and commercial contexts

The paper examines motivations and outcomes of elective genomic sequencing across research, clinical, and commercial contexts, finding most participants found results medically important but few shared them with healthcare providers.

Impact of Cardiomyopathy and Arrhythmia Genetic Testing on Clinical Management Decisions

This study examines how genetic testing results for cardiomyopathy and arrhythmia influence clinical management decisions, finding that positive results lead to more management changes.

Polyclonal origins of human premalignant colorectal lesions

This study shows that many premalignant colorectal polyps contain multiple genetic lineages, indicating polyclonal origins rather than single-cell expansion.

Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record

The paper uses a polygenic risk score for colorectal cancer in a PheWAS to find genetic correlations with other phenotypes from electronic health records.

Single-cell spatial mapping reveals alteration of tissue microenvironment during early colorectal cancer

The paper uses spatial CODEX experiments to show early colorectal cancer microenvironment changes in FAP, including CAFs, immune suppression, and beta-catenin nuclear translocation.

Global loss of promoter-enhancer connectivity and rebalancing of gene expression during early colorectal cancer carcinogenesis

This study shows that early colorectal cancer loses promoter-enhancer connectivity, leading to gene expression changes and a two-phase model of transcriptional regulation.

Robust and generalizable segmentation of human functional tissue units

The paper evaluates five algorithms for segmenting functional tissue units in kidney and colon tissues using histological stains, comparing their accuracy and generalizability.

Ultra high-throughput whole-genome methylation sequencing reveals trajectories in precancerous polyps to early colorectal adenocarcinoma

The paper uses ultra high-throughput methylation sequencing to study DNA methylation changes during colorectal cancer progression from normal tissue to adenocarcinoma.

High Resolution Single Cell Maps Reveals Distinct Cell Organization and Function Across Different Regions of the Human Intestine

The paper maps cell organization and function across human intestine regions using single nuclear RNA and open chromatin assays, revealing distinct cell neighborhoods and regulatory differences.

Single-cell analyses reveal a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer

The paper uses single-cell data to show a continuum of cell state and composition changes from polyps to colorectal cancer, identifying stem-like cells and regulatory markers.