Diabetes is one of the fastest growing diseases worldwide, projected to affect 693 million
adults by 2045. Devastating macrovascular complications (cardiovascular disease) and …

Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …

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 …

Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

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 …

A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome …

To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …

Identifying causal factors for Mendelian and common diseases is an ongoing challenge in
medical genetics. Population bottleneck events, such as those that occurred in the history of …

Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease …