Numerous related sample characteristics affect polygenic score performance, and incorporation of interaction effects increases both model and polygenic score performance.
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.
Studies with mice and brain organoids models reveals that dysregulation of GTF2IRD1-TTR-ERK pathway significantly contributes to neuronal deficits of Williams syndrome.
If CHIP and mLOY do not significantly contribute to inflammation, atherosclerosis or myocardial infarction risk independently, CHIP may increase the risk of MI in men who do not carry mLOY.
In metastatic NSCLC patients, CHIP showed minimal impact on immunotherapy response but was more prevalent and associated with inflammatory pathways in myeloid cells, particularly in lung squamous cell carcinoma.
