Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor …

Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low-…

X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes
in female mammalian cells to balance expression dosage between XX females and XY …

Nuclear magnetic resonance assays allow for measurement of a wide range of metabolic
phenotypes. We report here the results of a GWAS on 8,330 Finnish individuals genotyped and …

Genome-wide association studies have identified numerous loci linked with complex diseases,
for which the molecular mechanisms remain largely unclear. Comprehensive molecular …

Concentrations of liver enzymes in plasma are widely used as indicators of liver disease.
We carried out a genome-wide association study in 61,089 individuals, identifying 42 loci …

A high-throughput proton (1H) nuclear magnetic resonance (NMR) metabonomics approach
is introduced to characterise systemic metabolic phenotypes. The methodology combines …

Disease incidences increase with age, but the molecular characteristics of ageing that lead
to increased disease susceptibility remain inadequately understood. Here we perform a …