Despite the extensive discovery of trait-and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …

Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this
conference was to develop an expert consensus-driven working framework for …

Prostate cancer is a highly heritable disease with large disparities in incidence rates across
ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer …

The transferability and clinical value of genetic risk scores (GRSs) across populations
remain limited due to an imbalance in genetic studies across ancestrally diverse …

Genome-wide association studies (GWAS) have laid the foundation for investigations into
the biology of complex traits, drug development and clinical guidelines. However, the …

Height is a highly heritable, classic polygenic trait with approximately 700 common
associated variants identified through genome-wide association studies so far. Here, we …

Here we describe the insights gained from sequencing the whole genomes of 2,636
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …

Recent work has leveraged the extensive genotyping of the Icelandic population to perform
long-range phasing (LRP), enabling accurate imputation and association analysis of rare …

Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity,
large number and modest effect sizes of associated variants on disease risk and the …

Loss-of-function mutations protective against human disease provide in vivo validation of
therapeutic targets,,, but none have yet been described for type 2 diabetes (T2D). Through …