Adrienne Margaret Flanagan

This study uses single-cell and spatial multi-omics to analyze a malignant peripheral nerve sheath tumor, revealing chromosomal instability drives phenotypic diversity and spatial-temporal evolution.

This study shows that a genetically engineered mouse model of osteosarcoma recapitulates the genomic complexity and driver mutations observed in human osteosarcoma.

Across 14 sarcoma and mimic subtypes, six pathology foundation models beat ResNet50 but lost accuracy under multi-institutional staining; adding 121 externally stained slides narrowed the gap.

This study shows that a specific PTEN mutation causes macrocephaly, lymphoid overgrowth, and late-onset cancer in mice by impairing nuclear PTEN functions, while maintaining normal PI3K/AKT signaling.

This study uses single-cell transcriptomics to compare in vitro and in vivo chondrocyte differentiation, identifies off-target differentiation, and improves in vitro protocols by inhibiting FOXO1.

The paper benchmarks structural variant callers in cancer genomics and recommends a consensus approach combining Delly, GRIDSS, Manta, and SvABA for improved performance.

SAVANA improves detection of somatic structural variants and copy number aberrations in cancer using long-read sequencing with higher sensitivity and specificity than existing tools.

This study identifies ATF4-mediated metabolic stress response as a therapeutic target in chordoma, showing that EPRS inhibitors reduce cell viability and inhibit tumor growth in vivo.

The paper identifies second somatic NF1 mutations in normal tissues of neurofibromatosis type 1 patients through whole genome and exome sequencing, showing positive selection of truncating mutations in these tissues.

This study identifies chromothripsis and a novel LTA chromothripsis mechanism driving genome complexity and evolution in osteosarcoma, with prognostic implications for high-grade tumors.

This paper introduces GRITIC, a method to time genomic gains in tumors, finding that copy number gains often accumulate after genome duplication.

The paper presents a genetic model of central chondrosarcoma using genomic and epigenomic data to identify mutations and methylation patterns associated with patient outcomes.

The paper describes a workflow for efficient single nucleotide variant editing using CRISPR/Cas9, showing how experimental conditions affect editing efficiency and introducing methods for screening and quality control.

The paper analyzes somatic substitutions in non-unique regions of the human genome across 2,658 cancers, revealing hidden mutations in coding sequences and regulatory elements.

This study identifies genomic and methylation patterns associated with benign metastases and malignant transformation in giant cell tumour of bone.

PGP-UK explores citizen science in genomics by recruiting participants, sharing data, and developing tools to advance personalized medicine.