Recent technological advances have expanded the breadth of available omic data, from
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic data…

… Lin, MD, clinician leader and educator; Thomas Ullman, MD, MSc, clinician leader and
educator; Douglas Dieterich, MD, clinician leader and educator; Scott Friedman, MD, clinician …

Complex interactions among genes and environmental factors are known to play a role in
common human disease aetiology. There is a growing body of evidence to suggest that …

One of the greatest challenges facing human geneticists is the identification and
characterization of susceptibility genes for common complex multifactorial human diseases. This …

Here we conducted a large-scale genetic association analysis of educational attainment in
a sample of approximately 1.1 million individuals and identify 1,271 independent genome-…

Motivation: Polymorphisms in human genes are being described in remarkable numbers.
Determining which polymorphisms and which environmental factors are associated with …

Background Loss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been
associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) …

Motivation: Emergence of genetic data coupled to longitudinal electronic medical records (EMRs)
offers the possibility of phenome-wide association scans (PheWAS) for disease–gene …

Background Genetic variants of the enzyme that metabolizes warfarin, cytochrome P-450
2C9 (CYP2C9), and of a key pharmacologic target of warfarin, vitamin K epoxide reductase (…

Candidate gene and genome-wide association studies (GWAS) have identified genetic variants
that modulate risk for human disease; many of these associations require further study to …