Enhancers control the correct temporal and cell-type-specific activation of gene expression
in multicellular eukaryotes. Knowing their properties, regulatory activity and targets is crucial …

Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting
from knockouts of these genes in mice have provided tremendous insight into gene function …

The FANTOM5 project investigates transcription initiation activities in more than 1,000 human
and mouse primary cells, cell lines and tissues using CAGE. Based on manual curation of …

Although it is generally accepted that cellular differentiation requires changes to transcriptional
networks, dynamic regulation of promoters and enhancers at specific sets of genes has …

A large proportion of biomedical research and the development of therapeutics is focused
on a small fraction of the human genome. In a strategic effort to map the knowledge gaps …

The International Mouse Phenotyping Consortium (IMPC) web portal ( http://www.mousephenotype.org
) provides the biomedical community with a unified point of access to mutant …

Although next-generation sequencing has revolutionized the ability to associate variants with
human diseases, diagnostic rates and development of new therapies are still limited by a …

The role of sex in biomedical studies has often been overlooked, despite evidence of sexually
dimorphic effects in some biological studies. Here, we used high-throughput phenotype …

Background The Cell Ontology (CL) is an OBO Foundry candidate ontology covering the
domain of canonical, natural biological cell types. Since its inception in 2005, the CL has …

Background The Cell Ontology (CL) is an ontology for the representation of in vivo cell types.
As biological ontologies such as the CL grow in complexity, they become increasingly …