Complex diseases are caused by a combination of genetic, lifestyle, and environmental
factors and comprise common noncommunicable diseases, including allergies …

Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific
combined phenotype that we described in two Swedish kindreds in 2014; its genetic cause …

Abstract CYP2C19 and CYP2D6 are important drug-metabolizing enzymes that are involved
in the metabolism of around 30% of all medications. Importantly, the corresponding genes …

Whole-genome sequencing (WGS) is a fundamental technology for research to advance
precision medicine, but the limited availability of portable and user-friendly workflows for …

The need for new safe and efficacious therapies has led to an increased focus on biologics
produced in mammalian cells. The human cell line HEK293 has bio-synthetic potential for …

The Swedish Twin Registry functions as research infrastructure containing information on
216,258 twins born between 1886 and 2015, of whom 86,199 pairs have zygosity …

Genome sequencing enables answering fundamental questions about the genetic basis of
adaptation, population structure and epigenetic mechanisms. Yet, we usually need a …

Many circulating proteins are associated with the presence or severity of disease. However,
whether these protein biomarkers are causal for disease development is usually unknown …

Despite considerable progress in schizophrenia genetics, most findings have been for large
rare structural variants and common variants in well-imputed regions with few genes …