Peer-reviewed · BJUI Compass · 2025
Germline homologous recombination repair (gHRR) variants in bladder cancer: Preliminary evidence and clinical implications
The study assessed the prevalence and clinical implications of germline variants in 20 DNA repair genes in bladder cancer patients of European ancestry. It found variants in about a third of patients, who more often had histopathological variants and underwent radical cystectomy at a younger age.
Hurle et al.
The study assessed the prevalence and clinical implications of germline variants in 20 DNA repair genes in bladder cancer patients of European ancestry. It found variants in about a third of patients, who more often had histopathological variants and underwent radical cystectomy at a younger age.
Dante Labs’ involvement
Dante Labs carried out the library preparation and whole-exome sequencing (WES) for this study. The research team extracted DNA from patients' peripheral blood samples and sent it to our laboratory (Tecnopolo D, L'Aquila), where WES libraries were prepared using the Agilent Sure Select exome v7 Library prep kit and sequenced as 150 nt paired-end reads on an Illumina NovaSeq6000.
Sequencing data were analysed using the Illumina DRAGEN Germline pipeline, which provides end-to-end analysis from .bcl to .vcf file, with reads mapped against the GRCh37 human reference genome.
Other publications
Peer-reviewed · Clinical Case Reports · 2026
Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, Through a Study of an Iranian Family With Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype–Genotype Correlation Analysis
Peer-reviewed · International Journal of Genomics · 2026
Alport Syndrome–Associated Pathogenic COL4A4 Variant in Sisters With Chronic Kidney Disease: Clinical Findings and Integrative Network Analysis
Peer-reviewed · Biology · 2026
Why Should a Genome Be Protected? Ethical, Legal, and Security Challenges in the Protection of Genomic Data
One test. A lifetime of answers.
One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.
Free shipping · Results in 6–8 weeks