Genome-wide allele-specific analysis: insights into regulatory variation

T Pastinen - Nature Reviews Genetics, 2010 - nature.com
Functional genomics is rapidly progressing towards the elucidation of elements that are
crucial for the cis-regulatory control of gene expression, and population-based studies of …

Inherited variation in gene expression

DA Skelly, J Ronald, JM Akey - Annual review of genomics and …, 2009 - annualreviews.org
Variation in gene expression constitutes an important source of biological variability within
and between populations that is likely to contribute significantly to phenotypic diversity …

Genetic and epigenetic contribution to complex traits

H Kilpinen, ET Dermitzakis - Human molecular genetics, 2012 - academic.oup.com
Much of the recent advances in functional genomics owe to developments in next-
generation sequencing technology, which has contributed to the exponential increase of …

Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals

A Battle, S Mostafavi, X Zhu, JB Potash… - Genome …, 2014 - genome.cshlp.org
Understanding the consequences of regulatory variation in the human genome remains a
major challenge, with important implications for understanding gene regulation and …

Patterns of Cis Regulatory Variation in Diverse Human Populations

BE Stranger, SB Montgomery, AS Dimas, L Parts… - PLoS …, 2012 - journals.plos.org
The genetic basis of gene expression variation has long been studied with the aim to
understand the landscape of regulatory variants, but also more recently to assist in the …

Polymorphic Cis- and Trans-Regulation of Human Gene Expression

VG Cheung, RR Nayak, IX Wang, S Elwyn… - PLoS …, 2010 - journals.plos.org
Expression levels of human genes vary extensively among individuals. This variation
facilitates analyses of expression levels as quantitative phenotypes in genetic studies where …

Targeted screening of cis-regulatory variation in human haplotypes

DJ Verlaan, B Ge, E Grundberg, R Hoberman… - Genome …, 2009 - genome.cshlp.org
Regulatory cis-acting variants account for a large proportion of gene expression variability in
populations. Cis-acting differences can be specifically measured by comparing relative …

The role of regulatory variation in complex traits and disease

FW Albert, L Kruglyak - Nature Reviews Genetics, 2015 - nature.com
We are in a phase of unprecedented progress in identifying genetic loci that cause variation
in traits ranging from growth and fitness in simple organisms to disease in humans …

[HTML][HTML] Impacts of variation in the human genome on gene regulation

RR Haraksingh, MP Snyder - Journal of molecular biology, 2013 - Elsevier
Recent advances in fast and inexpensive DNA sequencing have enabled the extensive
study of genomic and transcriptomic variation in humans. Human genomic variation is …

Mapping common regulatory variants to human haplotypes

T Pastinen, B Ge, S Gurd, T Gaudin… - Human molecular …, 2005 - academic.oup.com
Inter-individual variation in gene expression has proven to be in part governed by genetic
determinants, which may be trans-or cis-acting. The underlying cause of cis-acting …