Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …

More than 80 years ago, the first Polycomb-related phenotype was identified in Drosophila
melanogaster. Later, a group of diverse genes collectively called Polycomb group (PcG) …

Metabolic processes can influence disease risk and provide therapeutic targets. By
conducting genome-wide association studies of 1,091 blood metabolites and 309 metabolite …

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

The evolution of gene expression in mammalian organ development remains largely
uncharacterized. Here we report the transcriptomes of seven organs (cerebrum, cerebellum …

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 …

The Rab family of small GTPases regulates intracellular membrane trafficking by
orchestrating the biogenesis, transport, tethering, and fusion of membrane‐bound …

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

The importance of the placenta in supporting mammalian development has long been
recognized, but our knowledge of the molecular, genetic and epigenetic requirements that …

In this study, we leveraged the combined evidence of rare coding variants and common
alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale …