… d | Sampling and comparing the extremes of the distribution (arrows) for a quantitative
phenotype. As shown in panel d, individuals with rare variants in the same gene (red crosses) are …

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

Single nucleotide polymorphisms (SNPs) represent the most widespread type of sequence
variation in genomes, yet they have only emerged recently as valuable genetic markers for …

The goal of the International HapMap Project is to determine the common patterns of DNA
sequence variation in the human genome and to make this information freely available in the …

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

… In the present study, the TD system and its 3-D database of labels for the 1988 Talairach
atlas were tested for labeling of functional activation foci. TD system labels were compared with …

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 …

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 …

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 1 . Under the …