Andrew J. J. Mungall

This study evaluates Parent-of-Origin-Aware genomic analysis (POAga) to improve cascade testing in pancreatic cancer families by clarifying familial risk.

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

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.

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

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.

This study investigates how three Fusobacterium nucleatum strains modulate host cell transcriptomes and epigenomes through RNA-seq and ChIP-seq, revealing inflammation-related gene upregulation and chromatin remodeling during host cell invasion.

The paper optimizes a magnetic bead-based nucleic acid extraction protocol for SARS-CoV-2 testing to reduce cross-well contamination while maintaining sensitivity.

This study identifies genetic drivers of mantle cell lymphoma through exome and genome sequencing, revealing novel mutations in genes involved in RNA splicing and regulation.

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.

This study identifies somatic coding and regulatory variants in DLBCL, revealing novel mechanisms of oncogene deregulation and potential therapeutic targets.

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