Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Gene–environment interactions (G× E), the interplay of genetic variation with environmental
factors, have a pivotal impact on human complex traits and diseases. Statistically, G× E can …

Summary 10 years ago, a detailed analysis showed that only 33% of genome-wide
association study (GWAS) results included the X chromosome. Multiple recommendations …

Motivation Many genetics studies report results tied to genomic coordinates of a legacy
genome assembly. However, as assemblies are updated and improved, researchers are …

Decades of genetic association testing in human cohorts have provided important insights
into the genetic architecture and biological underpinnings of complex traits and diseases …

Abstract The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research
community, providing access to the most comprehensive database of human GWAS results …

Rates of sharing of genome-wide association studies (GWAS) summary statistics are
historically low, limiting potential for scientific discovery. Here we show, using GWAS …

Elevated fetal hemoglobin (HbF), which is partly controlled by genetic modifiers, ameliorates
disease severity in β hemoglobinopathies. Understanding the genetic basis of this trait holds …

Genetic summary data are broadly accessible and highly useful, including for risk prediction,
causal inference, fine map**, and incorporation of external controls. However, collapsing …

Pigmentation genetics has become an important pillar in the field of forensic genomics for its
application in DNA-based prediction of externally visible characteristics (EVCs). EVCs such …