Richard A. Moore

Genomic structures and regulation patterns at HPV integration sites in cervical cancer

The paper uses long-read sequencing to analyze HPV integration sites in cervical cancer genomes, identifying structural and epigenetic impacts of integration.

Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes

This paper presents a long-read sequencing dataset of cancer samples, showing its ability to resolve structural variants, haplotypes, and methylation patterns in precision medicine.

Single cell decoding of drug induced transcriptomic reprogramming in triple negative breast cancers

The paper identifies genomic and non-genomic contributions to drug resistance in triple negative breast cancer using single cell transcriptomics and copy number data.

Machine learning guided signal enrichment for ultrasensitive plasma tumor burden monitoring

This paper introduces MRD-EDGE, a machine learning platform for ultrasensitive ctDNA detection in plasma WGS, showing improved sensitivity and broader applicability for MRD monitoring.

Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities

Genome-Wide Detection of Imprinted Differentially Methylated Regions Using Nanopore Sequencing

The paper uses nanopore sequencing to detect imprinted differentially methylated regions in human B-lymphocyte cell lines, identifying known and novel DMRs and showing conservation across species.

The pink salmon genome: uncovering the genomic consequences of a strict two-year life-cycle

The paper analyzes the pink salmon genome to identify genomic consequences of a two-year life-cycle, finding Fst peaks and gene regions associated with temporal isolation and selection.

Epiclomal: probabilistic clustering of sparse single-cell DNA methylation data

Epiclomal clusters sparse single-cell DNA methylation data and imputes missing values, outperforming non-probabilistic methods and revealing sub-clonal methylation patterns in tumour genomes.

Dissociation of solid tumour tissues with cold active protease for single-cell RNA-seq minimizes conserved collagenase associated stress responses

This study identifies transcriptional stress responses in single-cell RNA-seq data from dissociated tumour tissues, showing that collagenase digestion induces a conserved stress response minimized by cold active protease.

Resource: Scalable whole genome sequencing of 40,000 single cells identifies stochastic aneuploidies, genome replication states and clonal repertoires

It’s okay to be green: Draft genome of the North American bullfrog (Rana [Lithobates] catesbeiana)

The paper reports the first draft genome of the North American bullfrog, providing genomic resources for amphibian research and supporting taxonomic classification.