High-throughput animal tracking and quantitative behaviour analysis detects diverse phenotypes in genetic disease models at a scale that makes drug screens possible.
A novel statistical framework and approach using sibling phenotype pairs allows inference of genetic architecture in the tails of complex traits to be made without genetic data.
Timothy J Abreo, Emma C Thompson ... Edward C Cooper
A single amino acid change in a neuronal ion channel called KCNQ2 blocks ion flow, prevents protein localization on axons, and results in severe epilepsy and slowed neurological development.