The last few years have seen the development of large efforts for the analysis of genome
function, especially in the context of genome variation. One of the most prominent directions …

The availability of the human genome sequence has allowed identification of disease-
causing mutations in many Mendelian disorders, and detection of significant associations of …

Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …

The ability to measure human aging from molecular profiles has practical implications in
many fields, including disease prevention and treatment, forensics, and extension of life …

Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial
public health impact. We conducted a multi-stage genome-wide association study (GWAS) …

Genome-wide association studies have identified thousands of loci for common diseases,
but, for the majority of these, the mechanisms underlying disease susceptibility remain …

Approaches exploiting trait distribution extremes may be used to identify loci associated with
common traits, but it is unknown whether these loci are generalizable to the broader …

The genetics of complex disease produce alterations in the molecular interactions of cellular
pathways whose collective effect may become clear through the organized structure of …

Allergen-specific immunoglobulin E (present in allergic sensitization) has a central role in
the pathogenesis of allergic disease. We performed the first large-scale genome-wide …

Genetic mapping of complex diseases to date depends on variations inside or close to the
genes that perturb their activities. A strong body of evidence suggests that changes in gene …