Federico A Vignale, Andrea Hernandez Garcia ... Adrian G Turjanski
DNA sequencing of the yerba mate (Ilex paraguariensis) genome reveals convergent genomic changes, biochemical pathways, mutations, and substrate-binding orientations responsible for caffeine biosynthesis when compared to coffee and tea plants.
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.
High-throughput animal tracking and quantitative behaviour analysis detects diverse phenotypes in genetic disease models at a scale that makes drug screens possible.
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.
A genetic screen and combined bioinformatic analyses revealed multiple novel transcription factors and their hierarchical organization in coordinating mitochondrial biogenesis.
Big data analysis, protein structure prediction, and artificial intelligence are integrated to predict novel and highly transmissible SARS-CoV-2 variants.
Thomas P Spargo, Lachlan Gilchrist ... Alfredo Iacoangeli
Pleiotropic loci that play a role in multiple neuropsychiatric diseases exist, but many of them might contribute to each disease via a distinct mechanism.