Whole genome sequencing to investigate a novel mandbulofacial deformity in Hereford cattle

This investigation stemmed from a novel syndrome in cattle characterized by abnormal mandibulofacial development. The sire and dam of all affected calves reported shared a common ancestor, suggesting a recessive mode of inheritance. The goal of this work was to identify a genomic variant associated with this condition in order to provide a means by which breeders can avoid matings between carrier individuals. This work also led to new information on pathways involved in mandibulofacial development, which is of relevance across species.