Genetic variations that underlie common autoimmune disease genes are predominantly regulatory and modify the expression of multiple genes within the HLA gene complex and throughout the immune system.

Rare SARM1 alleles encoding SARM1 variants that have constitutively high NADase activity and sensitise cultured neurons to mild stress are risk alleles for ALS and other, related motor disorders.

HLA class I-disease associations have been studied for decades; a new approach for investigating the underlying mechanism can overcome past problems with interpretation and help to understand the etiology of human diseases.

Genetic predisposition to uterine leiomyomas arises from variation at loci for genetic stability and genitourinary development, and in part explains the frequent occurrence of the condition in women with African origin.

Increasing levels of glucose-6-phosphate dehydrogenase deficiency are associated with decreasing risk of cerebral malaria, but with increased risk of severe malarial anaemia.

A new autoencoder-based genotype imputation method shows superior accuracy across human genomes of diverse ancestry and across the allele-frequency spectrum, while delivering significantly faster inference run times relative to standard imputation tools.

Genetic analyses reveal biological insight of a novel risk locus into systemic lupus erythematosus susceptibility.

The relationship between APOE genotype and disease risks may be environmentally moderated, with APOE4 being less harmful and unlikely to increase cardiometabolic risk in a physically active, energy-limited population.

A novel Mendelian randomisation framework unravels one gene expression component, correlated with proliferation and genome stability-related features, associated with telomere length in lung adenocarcinoma tumours, which provides insights into how telomere length influences the genetic basis of lung cancer aetiology.

GrimAge acceleration may increase the risk of colorectal cancer.