Ontologies, Phenotypes, and Big Data Data-organizing methods have been in place for
centuries, but very large data sets have come into being relatively recently. The authors …

The RASopathies are a group of disorders caused by a germline mutation in one of the
genes encoding a component of the RAS/MAPK pathway. These disorders, including …

Abstract The International Mouse Phenotyping Consortium (IMPC; https://www.
mousephenotype. org/) web portal makes available curated, integrated and analysed …

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

Mammalian organogenesis is a remarkable process. Within a short timeframe, the cells of
the three germ layers transform into an embryo that includes most of the major internal and …

Spatiotemporal orchestration of gene expression is required for proper embryonic
development. The use of single-cell technologies has begun to provide improved resolution …

The use of animal models, particularly genetically modified mice, continues to play a critical
role in studying the relationship between bile acid metabolism and human liver disease …

Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-
mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However, not all PTCs …

Identified as a hallmark of cancer, metabolic reprogramming allows cancer cells to rapidly
proliferate, resist chemotherapies, invade, metastasize, and survive a nutrient-deprived …

MeCP2 is a reader of the DNA methylome that occupies a large proportion of the genome
due to its high abundance and the frequency of its target sites. It has been the subject of …