Genotype articles from across Nature Portfolio

Human genetic evidence increases the success rate of drugs from clinical development to approval but we are still far from reaching peak genetic insights to aid the discovery of targets for more effective drugs.

Great efforts are being made to develop advanced polygenic risk scores (PRS) to improve the prediction of complex traits and diseases. However most existing PRS are primarily trained on European ancestry populations, limiting their transferability to non-European populations. Here the authors propose a new multi-ancestry PRS method, PROSPER, to reduce disparity of PRS performance across ancestry groups.

Innovative pharmacogenomic approaches (genetic variation related to medication response) are needed to reduce disease and disparities in Indigenous communities. We support community-based pharmacogenomics research, inclusive of Indigenous values and priorities, to improve the health and well-being of Indigenous peoples.

New findings support the existence of an antigen presentation-independent mechanism known as the ‘cusp theory’ and the involvement of a newly discovered ‘lupus epitope’ in systemic lupus erythematosus susceptibility.

Imputing missing parental genotypes sharpens estimates of direct genetic effects.

During development, cell competition causes apoptosis of cells with abnormal ribosomal protein profiles. Ji et al. show that this same mechanism also deletes aneuploid cells and that the deleted cell populations mainly have altered ribosomal protein gene dosages.

Host genetics, housing conditions, and antibiotic treatments impact microbiota diversity and composition, but microbes that inhabit the mouse gut and skin can also influence severity and penetrance of host mutant phenotypes.