Genome-wide association studies have identified many variants that each affects multiple
traits, particularly across autoimmune diseases, cancers and neuropsychiatric disorders …

Significance testing was developed as an objective method for summarizing statistical
evidence for a hypothesis. It has been widely adopted in genetic studies, including genome …

Exome sequencing and the genetic basis of complex traits | Nature Genetics Skip to main
content Thank you for visiting nature.com. You are using a browser version with limited support …

Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by
hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80%,. We …

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 …

Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of
alleles, including common alleles of small effect that might be detected by genome-wide …

The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

Background High plasma HDL cholesterol is associated with reduced risk of myocardial
infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes …

Background Cancers arise from multiple acquired mutations, which presumably occur over
many years. Early stages in cancer development might be present years before cancers …

Background PLINK 1 is a widely used open-source C/C++ toolset for genome-wide
association studies (GWAS) and research in population genetics. However, the steady …