Background Stratification of patients with post-acute sequelae of SARS-CoV-2 infection
(PASC, or long COVID) would allow precision clinical management strategies. However …

Federated learning initiatives in healthcare are being developed to collaboratively train
predictive models without the need to centralize sensitive personal data. GenoMed4All is …

Making a specific diagnosis in neurodevelopmental disorders is traditionally based on
recognizing clinical features of a distinct syndrome, which guides testing of its possible …

There are thousands of distinct disease entities and concepts, each of which are known by
different and sometimes contradictory names. The Monarch Initiative aims to integrate …

Beacon is a basic data discovery protocol issued by the Global Alliance for Genomics and
Health (GA4GH). The main goal addressed by version 1 of the Beacon protocol was to test …

Technological advances in both genome sequencing and prenatal imaging are increasing
our ability to accurately recognize and diagnose Mendelian conditions prenatally …

Precision medicine needs precise phenotypes. The Human Phenotype Ontology (HPO)
uses clinical signs instead of diagnoses and has become the standard annotation for …

Genomic information is a very sensitive type of digital information as it not only applies to a
person, but also to close relatives. Therefore, privacy provision is key to protecting genomic …

Annotation of biomedical entities with ontology classes provides for formal semantic analysis
and mobilisation of background knowledge in determining their relationships. To date …

Mutational hotspots are DNA regions with an abnormally high frequency of genetic variants.
Identifying whether a variant is located in a mutational hotspot is critical for determining the …