The sequence of chromosome 21 was a turning point for the understanding of Down
syndrome. Comparative genomics is beginning to identify the functional components of the …

… Montgomery SB, Sammeth M, Gutierrez-Arcelus M, Lach RP, Ingle C, Nisbett J, Guigo R&
Dermitzakis ET . 2010 Transcriptome genetics using second generation sequencing in a …

A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease. Over …

… Melé et al. measured how transcription varies among tissues, and Rivas et al. looked at
how … The distribution of gene expression across tissues is described by Melé et al. (17), who …

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

We report the generation and analysis of functional data from multiple, diverse experiments
performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE …

The ENCyclopedia Of DNA Elements (ENCODE) Project aims to identify all functional elements
in the human genome sequence. The pilot phase of the Project is focused on a specified …

Extensive studies are currently being performed to associate disease susceptibility with one
form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years, …

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 …

To identify common variants influencing body mass index (BMI), we analyzed genome-wide
association data from 16,876 individuals of European descent. After previously reported …