A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …

Observational epidemiological studies are prone to confounding, reverse causation and
various biases and have generated findings that have proved to be unreliable indicators of …

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

Pleiotropy, the phenomenon of a single genetic variant influencing multiple traits, is likely
widespread in the human genome. If pleiotropy arises because the single nucleotide …

Major depressive disorder (MDD) is a common illness accompanied by considerable
morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide …

Genome-wide association studies have identified many variants that each affects multiple
traits, particularly across autoimmune diseases, cancers and neuropsychiatric disorders …

The genetic correlation describes the genetic relationship between two traits and can
contribute to a better understanding of the shared biological pathways and/or the causality …

abstract Mendelian randomization (MR) is an increasingly important tool for appraising
causality in observational epidemiology. The technique exploits the principle that genotypes …

The genotype–fitness map (that is, the fitness landscape) is a key determinant of evolution,
yet it has mostly been used as a superficial metaphor because we know little about its …

Early genome-wide association studies (GWASs) led to the surprising discovery that, for
typical complex traits, most of the heritability is due to huge numbers of common variants …