To the Editor—Biologists are important stakeholders in genomic data, both as data
generators and as users of genomic data resources. Tools to efficiently visualize and …

Mouse models are used extensively to understand human pathobiology and mechanistic
functions of disease‐associated loci. However, in this review, we investigate the potential of …

Objective: To explore how disease-related causality is formally represented in current
ontologies and identify their potential limitations. Methods: We conducted a systematic …

Together with the molecular knowledge of genes and proteins, biological images promise to
significantly enhance the scientific understanding of complex cellular systems and to …

Causal mutations in the MCPH1 gene have been associated with disorders like
microcephaly, and recently congenital hearing impairment. This study examined the MCPH1 …

Developing a complex collaborative program across multiple African countries,
characterized by a diversity of government models, laws, cultures and norms, resources and …

Abstract The Sickle Cell Disease (SCD) Ontology (SCDO, https://scdontology. h3abionet.
org/) provides a comprehensive knowledge base of SCD management, systems and …

Background: Childhood hearing loss is a common chronic condition that may have a broad
impact on children's communication and motor and cognitive development, resulting in …

Sickle cell disease (SCD) is one of the most common blood disorders impacting planetary
health. Over 300,000 newborns are diagnosed with SCD each year globally, with an …

Precision medicine describes the definition of disease at a higher resolution by genomic and
other technologies to enable more precise targeting of disease subgroups with new …