Medical genetics articles from across Nature Portfolio

The authors examine how mutations combine to alter phenotypes in biophysical models of proteins and conclude that non-additive interactions (epistasis and dominance) are frequent, context-dependent and so challenging to predict in even the simplest of biological systems.

Identifying the ways that a study sample is not representative is essential for maximizing the generalizability of findings to the population. A new method proposes discerning non-representativeness in large-scale genetic studies by comparing the genotypes of closely related participants.

Meta-analysis of genome-wide association studies of spontaneous coronary artery dissection (SCAD), an important cause of myocardial infarction, identified 11 risk loci that involve genes related to artery integrity and tissue-mediated coagulation. Evidence supports SCAD as a genetically distinct condition from atherosclerotic coronary artery disease.