Drug discovery is adapting to novel technologies such as data science, informatics, and
artificial intelligence (AI) to accelerate effective treatment development while reducing costs …

Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …

While single-cell technologies have greatly advanced our comprehension of human brain
cell types and functions, studies including large numbers of donors and multiple brain …

Abstract The Illuminating the Druggable Genome (IDG) project aims to improve our
understanding of understudied proteins and our ability to study them in the context of …

With progressive digitalization of healthcare systems worldwide, large-scale collection of
electronic health records (EHRs) has become commonplace. However, an extensible …

Bridging the gap between genetic variations, environmental determinants, and phenotypic
outcomes is critical for supporting clinical diagnosis and understanding mechanisms of …

Drug discovery and development is a complex and costly process. Machine learning
approaches are being investigated to help improve the effectiveness and speed of multiple …

Background Ontologies are fundamental components of informatics infrastructure in
domains such as biomedical, environmental, and food sciences, representing consensus …

The rapid adoption of single-cell technologies has created an opportunity to build single-cell
'atlases' integrating diverse datasets across many laboratories. Such atlases can serve as a …

Background Rare diseases affect more than 30 million Americans. The passage of the
Orphan Drug Act (ODA) in the United States in 1983 represented a launching point for a rare …