Cancers develop through somatic mutagenesis, however germline genetic variation can
markedly contribute to tumorigenesis via diverse mechanisms. We discovered and phased 88 …

… In European countries such as Germany, it is expected that … We calculated the PRS of 10
common diseases in a German … the genomDE program of the German Ministry of Health to OR …

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 …

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 combination of ipilimumab and nivolumab was not approved in Germany until 2016,
whereas ipilimumab had been approved since 2011. Since the combination of ipilimumab and …

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 …

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 …

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 …

… The present study includes 26 childhood and adolescent patients who were diagnosed
with paediatric melanoma and were registered at the German Registry for Rare Paediatric …