Penetrance is the probability that an individual with a pathogenic genetic variant develops a
specific disease. Knowing the penetrance of variants for monogenic disorders is important …

Traditional classification of genetic diseases as monogenic and polygenic has lagged far
behind scientific progress. In this opinion article, we propose and define a new terminology …

Rare coding variants that substantially affect function provide insights into the biology of a
gene,–. However, ascertaining the frequency of such variants requires large sample sizes …

We assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28
diseases and 25 quantitative traits that has been made available on the individuals in UKB …

In genomic medicine, the concept of genetically transitional disease (GTD) refers to cases in
which gene mutation is necessary but not sufficient to cause disease. In this Perspective, we …

Non-coding RNAs (ncRNAs) are a group of molecules critical for cell development and
growth regulation. They are key regulators of important cellular pathways in the tumor …

Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention
at the population level given the ongoing under-ascertainment of high-risk and actionable …

Beyond initial discovery of a pathogenic variant, establishing that a variant is recurrently
associated with disease is important for understanding clinical impact and disease etiology …

Rare genetic diseases affect millions, and identifying causal DNA variants is essential for
patient care. Therefore, it is imperative to estimate the effect of each independent variant and …

Abstract Purpose The UK 100,000 Genomes Project offered participants screening for
additional findings (AFs) in genes associated with familial hypercholesterolemia (FH) or …