Natalia Brzozowska

The paper reports mutation rates and mutational signatures across 53 normal human cell types, revealing variation in mutation accumulation and identifying known and unknown mutational processes.

The paper introduces a high-accuracy sequencing method to detect somatic mutations in tissues, revealing extensive selection and driver mutations in oral epithelium and blood samples.

The paper identifies convergent somatic escape variants in SERPINA1 in A1AT deficiency patients, showing adaptive mutations that counteract the disease-causing germline variant.

This study finds that somatic mutation rates per year decrease with species lifespan across mammals, suggesting evolutionary constraints on mutagenesis and its role in ageing.

The paper characterizes genetic circuit components in E. coli to develop a biosensor for detecting Campylobacter jejuni using xylulose as a biomarker.