Javier Herrero

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.

GIMMEcpg is a fast, scalable methylation imputation tool that improves accuracy and efficiency over existing methods, with a machine learning variant offering higher accuracy.

This study identifies epigenetic changes and accelerated ageing in multifocal small intestinal neuroendocrine tumours, revealing altered metabolic gene regulation and tumour-specific methylation patterns.

The paper tracks the epigenetic fate of endogenous retroviruses during neural differentiation, identifying genetic escapees that evade TRIM28 repression and contribute to gene expression differences.

GenomeChronicler generates genomic reports from whole genome or exome sequencing data, linking variants to known phenotypes using public databases.

The paper describes the PGP-UK multi-omics reference panel, providing open access to genomic, methylomic, and transcriptomic data with quality control and API access.

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

Aequatus provides an in-depth visualization of gene structure across gene families, with options to render and filter visualizations, and is available as an open-source tool.