Promoter-interacting expression quantitative trait loci are enriched for functional genetic variants

Transcription factors and 3D genome conformation in cell-fate decisions

(2019) Ralph Stadhouders et al.   NATURE

Long-range enhancer–promoter contacts in gene expression control

(2019) Stefan Schoenfelder et al.   NATURE REVIEWS GENETICS

Expression estimation and eQTL mapping for HLA genes with a personalized pipeline

(2019) Vitor R. C. Aguiar et al.   PLoS Genetics

A compendium of promoter-centered long-range chromatin interactions in the human genome

(2019) Inkyung Jung et al.   NATURE GENETICS

Identification of significant chromatin contacts from HiChIP data by FitHiChIP

(2019) Sourya Bhattacharyya et al.   Nature Communications

Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS

(2018) Amanda Dobbyn et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic dissection of enhancers uncovers principles of combinatorial regulation and cell type-specific wiring of enhancer–promoter contacts

(2018) Verena Thormann et al.   NUCLEIC ACIDS RESEARCH

High throughput characterization of genetic effects on DNA:protein binding and gene transcription

(2018) Cynthia A Kalita et al.   GENOME RESEARCH

Impact of Genetic Polymorphisms on Human Immune Cell Gene Expression

(2018) Benjamin J. Schmiedel et al.   CELL

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor

(2017) Kevin Litchfield et al.   NATURE GENETICS

Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor

(2017) Zhaoming Wang et al.   NATURE GENETICS

Genome-wide characterization of mammalian promoters with distal enhancer functions

(2017) Lan T M Dao et al.   NATURE GENETICS

Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements

(2017) Maxwell R Mumbach et al.   NATURE GENETICS

FINEMAP: efficient variable selection using summary data from genome-wide association studies

(2016) Christian Benner et al.   BIOINFORMATICS

Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters

(2016) Biola M. Javierre et al.   CELL

Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay

(2016) Ryan Tewhey et al.   CELL

Mapping of long-range chromatin interactions by proximity ligation-assisted ChIP-seq

(2016) Rongxin Fang et al.   CELL RESEARCH

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

17q21 asthma-risk variants switch CTCF binding and regulate IL-2 production by T cells

(2016) Benjamin Joachim Schmiedel et al.   Nature Communications

A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome

(2016) Anthony D. Schmitt et al.   Cell Reports

The Genotype-Tissue Expression (GTEx) Project

(2015) Latarsha J. Carithers et al.   BIOPRESERVATION AND BIOBANKING

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Identification of four new susceptibility loci for testicular germ cell tumour

(2015) Kevin Litchfield et al.   Nature Communications

The Genotype-Tissue Expression (GTEx) Project

(2015) Latarsha J. Carithers et al.   Biopreservation and Biobanking

SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs IDs and Genomic Coordinates of Massive Sequence Variants

(2015) Jia-En Deng et al.   G3-Genes Genomes Genetics

Genome-Scale CRISPR-Mediated Control of Gene Repression and Activation

(2014) Luke A. Gilbert et al.   CELL

Statistical confidence estimation for Hi-C data reveals regulatory chromatin contacts

(2014) F. Ay et al.   GENOME RESEARCH

Obesity-associated variants within FTO form long-range functional connections with IRX3

(2014) Scott Smemo et al.   NATURE

Epigenomic analysis of primary human T cells reveals enhancers associated with TH2 memory cell differentiation and asthma susceptibility

(2014) Grégory Seumois et al.   NATURE IMMUNOLOGY

Genome organization and long-range regulation of gene expression by enhancers

(2013) Andrea Smallwood et al.   CURRENT OPINION IN CELL BIOLOGY

Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources

(2013) Erin M Ramos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities

(2010) Sven Heinz et al.   MOLECULAR CELL

Fine-scale recombination rate differences between sexes, populations and individuals

(2010) Augustine Kong et al.   NATURE

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

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