Immune checkpoint blockade (ICB)-based or natural cancer immune responses largely
eliminate tumours. Yet, they require additional mechanisms to arrest those cancer cells that are …

Mobile element insertions (MEIs) are a known cause of genetic disease but have been
underexplored due to technical limitations of genetic testing methods. Various bioinformatic tools …

Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses ‘beyond …

In recent years, next‐generation sequencing (NGS) has become a cornerstone of clinical
genetics and diagnostics. Many clinical applications require high precision, especially if rare …

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network
for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate …

Background: Mucosal and acral melanoma respond worse to immune checkpoint inhibitors (ICI)
than cutaneous melanoma. MDM2/4 as well as EGFR amplifications are supposed to be …

The detection of somatic driver mutations by next-generation sequencing (NGS) is becoming
increasingly important in the care of advanced melanoma patients. In our study, we …

The impact of healthy aging on molecular programming of immune cells is poorly understood.
Here we report comprehensive characterization of healthy aging in human classical …

In the era of precision medicine, genome sequencing (GS) has become more affordable
and the importance of genomics and multi-omics in clinical care is increasingly being …

Purpose Genetic tumour profiles and radiomic features can be used to complement clinical
information in head and neck squamous cell carcinoma (HNSCC) patients. Radiogenomics …