Peter Priestley

The paper develops a DNA-based T-cell infiltration score from whole-genome sequencing to predict immunotherapy response and survival.

The paper characterizes genetic immune escape (GIE) across primary and metastatic tumors, finding high prevalence and type-specific differences in immune evasion mechanisms.

This study compares whole-genome sequences of primary and metastatic tumors across 7,152 samples, revealing cancer-type-specific genomic changes and treatment-induced evolutionary bottlenecks.

The paper compiles a comprehensive reference dataset of true somatic structural variations by analyzing melanoma and normal cell lines with multiple sequencing technologies and experimental validation.

VIRUSBreakend identifies viral DNA integration with high sensitivity and low false discovery rate using single breakend variant calling in cancer genomes.

GRIDSS2 identifies somatic structural variants by analyzing single breakends and phasing, achieving a 3.1% false negative rate in metastatic cancers and uncovering a novel duplication signature.

A three-tool chain calls somatic structural variants, purity, ploidy and copy number from paired tumour/normal whole genomes, then clusters breakpoints into derivative chromosome structures and gene fusions.