Adrian Baez‐Ortega

This study develops human epithelioids as a 3D culture system that maintains architecture, heterogeneity, and clonal evolution over time, enabling long-term studies of tissue dynamics and therapeutic responses.

This study shows that HSC dormancy, not apoptosis, limits mutagenesis in aging, with dormancy disruption accelerating mutation rates.

The paper identifies endogenous guanine adducts as drivers of tissue-specific mutagenesis and shows that Polκ and DNA repair mechanisms suppress these mutations.

This study uses sperm sequencing to show that positive selection in the male germline leads to a higher risk of disease-causing mutations in offspring.

The immune response to human primary cholangiocyte organoids is ameliorated by donor-recipient HLA matching.

The paper detects a single instance of host-to-tumour horizontal DNA transfer in canine transmissible venereal tumour, showing a 15-megabase genetic element from a dog with Middle Eastern ancestry.

This study generates HLA-edited cholangiocyte organoids with reduced immunogenicity and reports their mutation profiles and immune response in vitro and in vivo.

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.

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 examines how somatic structural variations affect TAD boundaries and gene regulation in human cancers using whole genome sequencing data.

This study identifies germline genetic variants influencing somatic mutation patterns in 2,642 cancer genomes across 39 cancer types.

This study characterizes mitochondrial genomes in 2,700 cancer patients across 37 types using whole-genome sequencing and RNA-seq, revealing mutational patterns, truncating mutations, and nuclear transfer of mitochondrial DNA.

This study analyzes chromothripsis in 2,658 cancers using whole-genome sequencing, finding it prevalent across multiple cancer types with complex structural alterations.

The paper identifies hundreds of genes deregulated by SVs in cancer, showing increased expression linked to SV breakpoints and enhancer elements.

The paper analyzes somatic retrotransposition events in 2,954 cancer genomes, identifying L1 insertions as significant contributors to structural variations and oncogenesis.

This paper reviews mathematical models and computational techniques for discovering mutational signatures in cancer genomes.