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 …
crucial for the cis-regulatory control of gene expression, and population-based studies of …
Inherited variation in gene expression
Variation in gene expression constitutes an important source of biological variability within
and between populations that is likely to contribute significantly to phenotypic diversity …
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 …
generation sequencing technology, which has contributed to the exponential increase of …
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals
Understanding the consequences of regulatory variation in the human genome remains a
major challenge, with important implications for understanding gene regulation and …
major challenge, with important implications for understanding gene regulation and …
Patterns of Cis Regulatory Variation in Diverse Human Populations
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 …
understand the landscape of regulatory variants, but also more recently to assist in the …
Polymorphic Cis- and Trans-Regulation of Human Gene Expression
Expression levels of human genes vary extensively among individuals. This variation
facilitates analyses of expression levels as quantitative phenotypes in genetic studies where …
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 …
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 …
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 …
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 …
determinants, which may be trans-or cis-acting. The underlying cause of cis-acting …