Cis-regulatory variation: significance in biomedicine and evolution

Candidate gene association studies: a comprehensive guide to useful in silico tools

(2013) Radhika Patnala et al.   BMC GENETICS

A Polymorphic p53 Response Element in KIT Ligand Influences Cancer Risk and Has Undergone Natural Selection

(2013) Jorge Zeron-Medina et al.   CELL

Faddish Stuff: Epigenetics and the Inheritance of Acquired Characteristics

(2013) Mark Ptashne   FASEB JOURNAL

Modification of Enhancer Chromatin: What, How, and Why?

(2013) Eliezer Calo et al.   MOLECULAR CELL

Effect of natural genetic variation on enhancer selection and function

(2013) S. Heinz et al.   NATURE

Targeted DNA demethylation and activation of endogenous genes using programmable TALE-TET1 fusion proteins

(2013) Morgan L Maeder et al.   NATURE BIOTECHNOLOGY

Locus-specific editing of histone modifications at endogenous enhancers

(2013) Eric M Mendenhall et al.   NATURE BIOTECHNOLOGY

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

(2013) Michael N Weedon et al.   NATURE GENETICS

Genome-wide inference of natural selection on human transcription factor binding sites

(2013) Leonardo Arbiza et al.   NATURE GENETICS

Bringing genome-wide association findings into clinical use

(2013) Teri A. Manolio   NATURE REVIEWS GENETICS

Meta-analysis methods for genome-wide association studies and beyond

(2013) Evangelos Evangelou et al.   NATURE REVIEWS GENETICS

Exonic Transcription Factor Binding Directs Codon Choice and Affects Protein Evolution

(2013) A. B. Stergachis et al.   SCIENCE

Adaptive Evolution of Multiple Traits Through Multiple Mutations at a Single Gene

(2013) C. R. Linnen et al.   SCIENCE

Emergence and Diversification of Fly Pigmentation Through Evolution of a Gene Regulatory Module

(2013) L. Arnoult et al.   SCIENCE

Genome-Wide Quantitative Enhancer Activity Maps Identified by STARR-seq

(2013) C. D. Arnold et al.   SCIENCE

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

(2013) D. E. Bauer et al.   SCIENCE

Hsp90@chromatin.nucleus: an emerging hub of a networker

(2013) Ritwick Sawarkar et al.   TRENDS IN CELL BIOLOGY

Hemophilia B Leyden and once mysterious cis-regulatory mutations

(2013) Alister P.W. Funnell et al.   TRENDS IN GENETICS

Integrative Modeling of eQTLs and Cis-Regulatory Elements Suggests Mechanisms Underlying Cell Type Specificity of eQTLs

(2013) Christopher D. Brown et al.   PLoS Genetics

The interaction of genetic variants and DNA methylation of the interleukin-4 receptor gene increase the risk of asthma at age 18 years

(2013) Nelís Soto-Ramírez et al.   Clinical Epigenetics

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

(2013) Maria Gutierrez-Arcelus et al.   eLife

Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy

(2012) Benoît Funalot et al.   ANNALS OF NEUROLOGY

Hsp90 Globally Targets Paused RNA Polymerase to Regulate Gene Expression in Response to Environmental Stimuli

(2012) Ritwick Sawarkar et al.   CELL

A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression

(2012) Andrew W Dodd et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

DNase I sensitivity QTLs are a major determinant of human expression variation

(2012) Jacob F. Degner et al.   NATURE

The Drosophila melanogaster Genetic Reference Panel

(2012) Trudy F. C. Mackay et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Breast cancer risk–associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression

(2012) Richard Cowper-Sal·lari et al.   NATURE GENETICS

Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression

(2012) Johannes Schödel et al.   NATURE GENETICS

MicroRNA-mediated regulation of gene expression is affected by disease-associated SNPs within the 3′-UTR via altered RNA structure

(2012) Ulrike Haas et al.   RNA Biology

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Adaptive Evolution and the Birth of CTCF Binding Sites in the Drosophila Genome

(2012) Xiaochun Ni et al.   PLOS BIOLOGY

Extensive Evolutionary Changes in Regulatory Element Activity during Human Origins Are Associated with Altered Gene Expression and Positive Selection

(2012) Yoichiro Shibata et al.   PLoS Genetics

Analysis of variation at transcription factor binding sites in Drosophila and humans

(2012) Mikhail Spivakov et al.   GENOME BIOLOGY

Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease

(2011) Tuuli Lappalainen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

(2011) Olivier Harismendy et al.   NATURE

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Evolution of Hsp70 Gene Expression: A Role for Changes in AT-Richness within Promoters

(2011) Bing Chen et al.   PLoS One

Cooperative transcription factor associations discovered using regulatory variation

(2011) Konrad J. Karczewski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Three Periods of Regulatory Innovation During Vertebrate Evolution

(2011) C. B. Lowe et al.   SCIENCE

A twin approach to unraveling epigenetics

(2011) Jordana T. Bell et al.   TRENDS IN GENETICS

DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines

(2011) Jordana T Bell et al.   GENOME BIOLOGY

Population Differences in the Rate of Proliferation of International HapMap Cell Lines

(2010) Amy L. Stark et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein Homeostasis and the Phenotypic Manifestation of Genetic Diversity: Principles and Mechanisms

(2010) Daniel F. Jarosz et al.   Annual Review of Genetics

Global Epigenomic Analysis of Primary Human Pancreatic Islets Provides Insights into Type 2 Diabetes Susceptibility Loci

(2010) Michael L. Stitzel et al.   Cell Metabolism

Interpretation of Developmental Signaling at Chromatin: The Polycomb Perspective

(2010) Ritwick Sawarkar et al.   DEVELOPMENTAL CELL

The pursuit of genome-wide association studies: where are we now?

(2010) Chee Seng Ku et al.   JOURNAL OF HUMAN GENETICS

Questions over the scientific basis of epigenome project

(2010) Mark Ptashne et al.   NATURE

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

A map of open chromatin in human pancreatic islets

(2010) Kyle J Gaulton et al.   NATURE GENETICS

The study of eQTL variations by RNA-seq: from SNPs to phenotypes

(2010) Jacek Majewski et al.   TRENDS IN GENETICS

Chromatin Landscape Dictates HSF Binding to Target DNA Elements

(2010) Michael J. Guertin et al.   PLoS Genetics

Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS

(2010) Dan L. Nicolae et al.   PLoS Genetics

The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer

(2009) Mark M Pomerantz et al.   NATURE GENETICS

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner

(2009) A. S. Dimas et al.   SCIENCE

Evolution of Regulatory Sequences in 12 Drosophila Species

(2009) Jaebum Kim et al.   PLoS Genetics

Assessing the Impact of Transgenerational Epigenetic Variation on Complex Traits

(2009) Frank Johannes et al.   PLoS Genetics

Evaluation of Genetic Variation Contributing to Differences in Gene Expression between Populations

(2008) Wei Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variation in the miRNA-433 Binding Site of FGF20 Confers Risk for Parkinson Disease by Overexpression of α-Synuclein

(2008) Gaofeng Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

(2008) Rosa Rademakers et al.   HUMAN MOLECULAR GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

Revealing the architecture of gene regulation: the promise of eQTL studies

(2008) Yoav Gilad et al.   TRENDS IN GENETICS

Gene expression variation in African and European populations of Drosophila melanogaster

(2008) Stephan Hutter et al.   GENOME BIOLOGY