Genome-wide association studies (GWAS) have identified thousands of variants associated
with complex traits, but their biological interpretation often remains unclear. Most of these …

For most human complex diseases and traits, SNPs identified by genome-wide association
studies (GWAS) explain only a small fraction of the heritability. Here we report a user-friendly …

The human genome contains tens of thousands of large tandem repeats and hundreds of
genes that show common and highly variable copy-number changes. Due to their large size …

THE RECENT COMPLETION of the human genome sequence has shifted research efforts in
genomics toward understanding the function of the human genome, its regulation, and how …

With the rise of sequencing technologies, it is now feasible to assess the role rare variants
play in the genetic contribution to complex trait variation. While some of the earlier targeted …

More than 150 years after Mendel discovered the laws of heredity, the genetic architecture of
phenotypic variation remains elusive. Here, we discuss recent progress in deciphering how …

Short tandem repeats (STRs) have orders of magnitude higher mutation rates than single
nucleotide variants (SNVs) and have been proposed to accelerate evolution in many …

The approach to molecular genetic studies of complex phenotypes evolved considerably
during the recent years. The candidate gene approach, which is restricted to an analysis of a …

In order to further illuminate the potential role of dominant genetic variation in the" missing
heritability" debate, we investigated the additive (narrow-sense heritability, h 2) and …

Understanding genetic variation of complex traits in human populations has moved from the
quantification of the resemblance between close relatives to the dissection of genetic …