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

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 …

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 …

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 1 . Under the …

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 …

Common genetic polymorphisms may explain a portion of the heritable risk for common
diseases. Within candidate genes, the number of common polymorphisms is finite, but direct …

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 of 111× …

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 …

We demonstrate the successful application of exome sequencing 1 , 2 , 3 to discover a gene
for an autosomal dominant disorder, Kabuki syndrome (OMIM%147920). We subjected the …