Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …

Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …

Identification of the genetic polymorphisms that contribute to susceptibility for common
diseases such as type 2 diabetes and schizophrenia will aid in the development of …

Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density
lipoprotein cholesterol and triglycerides are among the most important risk factors for …

Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

Genome-wide association studies suggest that common genetic variants explain only a
modest fraction of heritable risk for common diseases, raising the question of whether rare …

We demonstrate the first successful application of exome sequencing to discover the gene
for a rare mendelian disorder of unknown cause, Miller syndrome (MIM% 263750). For four …

It is well established that autism spectrum disorders (ASD) have a strong genetic
component; however, for at least 70% of cases, the underlying genetic cause is unknown …

As a first step toward understanding how rare variants contribute to risk for complex
diseases, we sequenced 15,585 human protein-coding genes to an average median depth …

Background The management of warfarin therapy is complicated by a wide variation among
patients in drug response. Variants in the gene encoding vitamin K epoxide reductase …