Hundreds of thousands of genetic variants have been reported to cause severe monogenic
diseases, but the probability that a variant carrier develops the disease (termed penetrance) …

Genome-wide association studies have identified hundreds of robust genetic associations
underlying psychiatric disorders and provided important biological insights into disease …

Glaucoma, the world's leading cause of irreversible blindness, is a complex disease, with
differential presentation as well as ethnic and geographic disparities. The multifactorial …

Polygenic scores (PGSs) have emerged as promising tools for complex trait risk prediction.
The application of these scores to pharmacogenomics provides new opportunities to …

Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

Our capacity to measure diverse aspects of human biology has developed rapidly in the past
decades, but the rate at which these techniques have generated insights into the biological …

A polygenic risk score (PRS) is derived from a genome-wide association study and
represents an aggregate of thousands of single-nucleotide polymorphisms that provide a …

Genetic studies of human traits have revolutionized our understanding of the variation
between individuals, and yet, the genetics of most traits is still poorly understood. In this …

Asthma is a complex disease that varies widely in prevalence across populations. The
extent to which genetic variation contributes to these disparities is unclear, as the genetics …

Summary Background Obstructive Sleep Apnoea (OSA) often co-occurs with
cardiometabolic and pulmonary diseases. This study is to apply genetic analysis methods to …