Drug discovery is the process of new drug identification. This process is driven by the
increasing data from existing chemical libraries and data banks. The knowledge graph is …

Electronic health records (EHRs) are a rich source of data for researchers, but extracting
meaningful information out of this highly complex data source is challenging. Phecodes …

Developing personalized diagnostic strategies and targeted treatments requires a deep
understanding of disease biology and the ability to dissect the relationship between …

VarSome. com is a search engine, aggregator and impact analysis tool for human genetic
variation and a community-driven project aiming at sharing global expertise on human …

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

Abstract For over 50 years Mendelian Inheritance in Man has chronicled the collective
knowledge of the field of medical genetics. It initially cataloged the known X-linked …

Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …

Abstract ClinVar (https://www. ncbi. nlm. nih. gov/clinvar/) is a freely available, public archive
of human genetic variants and interpretations of their significance to disease, maintained at …

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Abstract The Open Targets Platform integrates evidence from genetics, genomics,
transcriptomics, drugs, animal models and scientific literature to score and rank target …