José Afonso Guerra‐Assunção

The CSF transcriptome in pneumococcal meningitis reveals compartmentalised host inflammatory responses associated with mortality.

The study compares CSF and blood transcriptomes in pneumococcal meningitis patients to identify mortality-associated inflammatory responses.

The Streptococcus pneumoniae transcriptome in patient cerebrospinal fluid identifies novel virulence factors required for meningitis

The paper uses RNA sequencing of cerebrospinal fluid from meningitis patients to identify S. pneumoniae virulence factors, finding two genes linked to increased mortality and reduced infection persistence.

AYUKA: A toolkit for fast viral genotyping using whole genome sequencing.

AYUKA is a fast, reliable viral genotyping tool using whole genome sequencing that requires no pre-processing and provides quality control metrics and genotype identification.

GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline

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

The Personal Genome Project-UK: an open access resource of human multi-omics data

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: a research and citizen science hybrid project in support of personalized medicine

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