Approaches that combine expression quantitative trait loci (eQTLs) and genome-wide
association (GWA) studies are offering new functional information about the aetiology of complex …

Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

We sequenced the 29,751-base genome of the severe acute respiratory syndrome (SARS)–associated
coronavirus known as the Tor2 isolate. The genome sequence reveals that this …

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 …

The Health Belief Model (HBM) has been applied to a variety of health conditions: most are
less threatening and require less complex responses than those arising in the case of AIDS. …

Genome-sequencing studies indicate that all humans carry many genetic variants predicted
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …

RNA sequencing (RNA-Seq) uses the capabilities of high-throughput sequencing methods
to provide insight into the transcriptome of a cell. Compared to previous Sanger sequencing-…

Gene expression is an important phenotype that informs about genetic and environmental
effects on cellular state. Many studies have previously identified genetic variants for gene …

Studies correlating genetic variation to gene expression facilitate the interpretation of
common human phenotypes and disease. As functional variants may be operating in a tissue-…

Sequence-based variation in gene expression is a key driver of disease risk. Common
variants regulating expression in cis have been mapped in many expression quantitative trait …