After a decade of genome-wide association studies (GWASs), fundamental questions in
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …

Transcriptome-wide association studies (TWAS) integrate genome-wide association studies
(GWAS) and gene expression datasets to identify gene–trait associations. In this …

This paper provides guidelines for performing Mendelian randomization investigations. It is
aimed at practitioners seeking to undertake analyses and write up their findings, and at …

Genome-wide association studies have yielded thousands of associations for many
common diseases and disease-related complex traits. The identified associations made it …

Genes play a strong role in Alzheimer's disease (AD), with late-onset AD showing heritability
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …

Horizontal pleiotropy occurs when the variant has an effect on disease outside of its effect on
the exposure in Mendelian randomization (MR). Violation of the 'no horizontal …

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 …

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share
symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing …

Statistical inference in two-sample summary-data Mendelian randomization using robust
adjusted profile score Page 1 The Annals of Statistics 2020, Vol. 48, No. 3, 1742–1769 https://doi.org/10.1214/19-AOS1866 …