Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …

Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …

Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …

Genome‐wide association studies (GWAS) have developed into a powerful and ubiquitous
tool for the investigation of complex traits. In large part, this was fueled by advances in …

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 …

A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been
systematically assessed because of the limitations of mapping short-read sequencing data …

The GWAS Catalog delivers a high-quality curated collection of all published genome-wide
association studies enabling investigations to identify causal variants, understand disease …

The implementation of targeted therapies for acute myeloid leukaemia (AML) has been
challenging because of the complex mutational patterns within and across patients as well …

Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …