Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …

Analyses of data from genome-wide association studies on unrelated individuals have
shown that, for human traits and diseases, approximately one-third to two-thirds of …

Disease variants identified by genome-wide association studies (GWAS) tend to overlap
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …

The omnigenic model was proposed as a framework to understand the highly polygenic
architecture of complex traits revealed by genome-wide association studies (GWASs). I …

Non-additive genetic variance for complex traits is traditionally estimated from data on
relatives. It is notoriously difficult to estimate without bias in non-laboratory species …

The ability to predict the impact of cis-regulatory sequences on gene expression would
facilitate discovery in fundamental and applied biology. Here we combine polysome profiling …

Genome-wide association studies have identified> 10,000 genetic variants associated with
various phenotypes and diseases. Although the majority are common variants, rare variants …

Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-
variant (RV) associations with complex human diseases and traits. Variant-set analysis is a …

We present the largest whole-genome sequencing (WGS) study of non-small cell lung
cancer (NSCLC) to date among 6,004 individuals of Chinese ancestry, coupled with 23,049 …