Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …

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

The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …

The true prevalence and penetrance of monogenic disease variants are often not known
because of clinical-referral ascertainment bias. We comprehensively assess the penetrance …

Polygenic scores (PGSs) combine the effects of common genetic variants, to predict risk or
treatment strategies for complex diseases,,,–. Adding rare variation to PGSs has largely …

The historical subclassification of diabetes into predominantly types 1 and 2 is well
appreciated to inadequately capture the heterogeneity seen in patient presentations …

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 …

The impact of copy-number variations (CNVs) on complex human traits remains
understudied. We called CNVs in 331,522 UK Biobank participants and performed genome …