The systematic screening of the human genome for genetic variants that affect gene
regulation should advance our fundamental understanding of phenotypic diversity and lead …

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

Understanding the genetic basis of human variation is a vital goal of biomedical research.
Studies in other organisms suggest that differences in gene expression levels account for a …

To study the genetic basis of natural variation in gene expression, we previously carried out
genome-wide linkage analysis and mapped the determinants of∼ 1,000 expression …

Disease Risk Links to Gene Regulation | Science news careers commentary Journals Science
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Functional polymorphism in genes can be classified as coding variation, altering the amino-
acid sequence of the encoded protein, or regulatory variation, affecting the level or pattern of …

Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …

Natural variation in gene expression is extensive in humans and other organisms, and
variation in the baseline expression level of many genes has a heritable component. To …

There is extensive natural variation in human gene expression. As quantitative phenotypes,
expression levels of genes are heritable. Genetic linkage and association mapping have …

Variation in DNA sequence contributes to individual differences in quantitative traits, but in
humans the specific sequence variants are known for very few traits. We characterized …