The GTEx Consortium atlas of genetic regulatory effects across human tissues

The impact of sex on gene expression across human tissues

(2020) Meritxell Oliva et al.   SCIENCE

Transcriptomic signatures across human tissues identify functional rare genetic variation

(2020) Nicole M. Ferraro et al.   SCIENCE

Cell type–specific genetic regulation of gene expression across human tissues

(2020) Sarah Kim-Hellmuth et al.   SCIENCE

Integrating predicted transcriptome from multiple tissues improves association detection

(2019) Alvaro N. Barbeira et al.   PLoS Genetics

CBX8 exhibits oncogenic properties and serves as a prognostic factor in hepatocellular carcinoma

(2019) Bo Tang et al.   Cell Death & Disease

Abundant associations with gene expression complicate GWAS follow-up

(2019) Boxiang Liu et al.   NATURE GENETICS

Chromatin three-dimensional interactions mediate genetic effects on gene expression

(2019) O. Delaneau et al.   SCIENCE

High-throughput identification of human SNPs affecting regulatory element activity

(2019) Joris van Arensbergen et al.   NATURE GENETICS

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

(2019) Pejman Mohammadi et al.   SCIENCE

A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder

(2018) Joanna Martin et al.   BIOLOGICAL PSYCHIATRY

Consent to a Postmortem Tissue Procurement Study: Distinguishing Family Decision Makers' Knowledge of the Genotype-Tissue Expression Project

(2018) Laura A. Siminoff et al.   BIOPRESERVATION AND BIOBANKING

Unraveling the role of aurora A beyond centrosomes and spindle assembly: implications in muscle differentiation

(2018) Karthigeyan Dhanasekaran et al.   FASEB JOURNAL

Deletion of mstna and mstnb impairs the immune system and affects growth performance in zebrafish

(2018) Chao Wang et al.   FISH & SHELLFISH IMMUNOLOGY

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

(2018) Eric R. Gamazon et al.   NATURE GENETICS

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

(2018) Farhad Hormozdiari et al.   NATURE GENETICS

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

(2018) Alvaro N. Barbeira et al.   Nature Communications

Consent to a Postmortem Tissue Procurement Study: Distinguishing Family Decision Makers' Knowledge of the Genotype-Tissue Expression Project

(2018) Laura A. Siminoff et al.   Biopreservation and Biobanking

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Identifyingcis-mediators fortrans-eQTLs across many human tissues using genomic mediation analysis

(2017) Fan Yang et al.   GENOME RESEARCH

Quantifying the regulatory effect size ofcis-acting genetic variation using allelic fold change

(2017) Pejman Mohammadi et al.   GENOME RESEARCH

Conditional eQTL analysis reveals allelic heterogeneity of gene expression

(2017) Rick Jansen et al.   HUMAN MOLECULAR GENETICS

Association analysis identifies 65 new breast cancer risk loci

(2017) Kyriaki Michailidou et al.   NATURE

Landscape of X chromosome inactivation across human tissues

(2017) Taru Tukiainen et al.   NATURE

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection

(2017) Steven Gazal et al.   NATURE GENETICS

Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues

(2017) Andrew Anand Brown et al.   NATURE GENETICS

Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits

(2017) Anke R Hammerschlag et al.   NATURE GENETICS

Estimating the causal tissues for complex traits and diseases

(2017) Halit Ongen et al.   NATURE GENETICS

Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization

(2017) Xiaoquan Wen et al.   PLoS Genetics

An Efficient Multiple-Testing Adjustment for eQTL Studies that Accounts for Linkage Disequilibrium between Variants

(2016) Joe R. Davis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Efficient Integrative Multi-SNP Association Analysis via Deterministic Approximation of Posteriors

(2016) Xiaoquan Wen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular QTL discovery incorporating genomic annotations using Bayesian false discovery rate control

(2016) Xiaoquan Wen   Annals of Applied Statistics

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

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

(2016) Ryan Tewhey et al.   CELL

Genome-wide associations for birth weight and correlations with adult disease

(2016) Momoko Horikoshi et al.   NATURE

Genome-wide association study identifies 74 loci associated with educational attainment

(2016) Aysu Okbay et al.   NATURE

Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

(2016) Aysu Okbay et al.   NATURE GENETICS

Disease variants alter transcription factor levels and methylation of their binding sites

(2016) Marc Jan Bonder et al.   NATURE GENETICS

RNA splicing is a primary link between genetic variation and disease

(2016) Yang I. Li et al.   SCIENCE

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

(2016) Stephane E. Castel et al.   Nature Communications

Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA

(2016) Johannes Kettunen et al.   Nature Communications

Cbx8 Acts Non-canonically with Wdr5 to Promote Mammary Tumorigenesis

(2016) Chi-Yeh Chung et al.   Cell Reports

Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci

(2016) Samuel E. Jones et al.   PLoS Genetics

Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease

(2016) James E. Peters et al.   PLoS Genetics

Approximately independent linkage disequilibrium blocks in human populations

(2015) Tomaz Berisa et al.   BIOINFORMATICS

Fast and efficient QTL mapper for thousands of molecular phenotypes

(2015) Halit Ongen et al.   BIOINFORMATICS

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

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

Female Breast Cancer Incidence Among Asian and Western Populations: More Similar Than Expected

(2015) Hyuna Sung et al.   JNCI-Journal of the National Cancer Institute

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Common genetic variants influence human subcortical brain structures

(2015) Derrek P. Hibar et al.   NATURE

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture

(2015) Hou‐Feng Zheng et al.   NATURE

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

(2015) Majid Nikpay et al.   NATURE GENETICS

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

(2015) James Bentham et al.   NATURE GENETICS

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

(2015) Lavinia Paternoster et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

A gene-based association method for mapping traits using reference transcriptome data

(2015) Eric R Gamazon et al.   NATURE GENETICS

HISAT: a fast spliced aligner with low memory requirements

(2015) Daehwan Kim et al.   NATURE METHODS

WASP: allele-specific software for robust molecular quantitative trait locus discovery

(2015) Bryce van de Geijn et al.   NATURE METHODS

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

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

The Ensembl Regulatory Build

(2015) Daniel R Zerbino et al.   GENOME BIOLOGY

Female Breast Cancer Incidence Among Asian and Western Populations: More Similar Than Expected

(2015) Hyuna Sung et al.   JNCI-Journal of the National Cancer Institute

Fast and accurate imputation of summary statistics enhances evidence of functional enrichment

(2014) Bogdan Pasaniuc et al.   BIOINFORMATICS

Epidermal gene expression and ethnic pigmentation variations among individuals of Asian, European and African ancestry

(2014) Lanlan Yin et al.   EXPERIMENTAL DERMATOLOGY

Identifying Causal Variants at Loci with Multiple Signals of Association

(2014) F. Hormozdiari et al.   GENETICS

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins

(2014) Alfonso Buil et al.   NATURE GENETICS

Heritability and genomics of gene expression in peripheral blood

(2014) Fred A Wright et al.   NATURE GENETICS

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes

(2014) T. Raj et al.   SCIENCE

GATA3: a master of many trades in immune regulation

(2014) Yisong Y. Wan   TRENDS IN IMMUNOLOGY

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

DIST: direct imputation of summary statistics for unmeasured SNPs

(2013) Donghyung Lee et al.   BIOINFORMATICS

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

(2013) A. Battle et al.   GENOME RESEARCH

Genetics of rheumatoid arthritis contributes to biology and drug discovery

(2013) Yukinori Okada et al.   NATURE

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Seeing is believing

(2013) Luc G Berthiaume   Nature Chemical Biology

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Systematic identification of trans eQTLs as putative drivers of known disease associations

(2013) Harm-Jan Westra et al.   NATURE GENETICS

Validating therapeutic targets through human genetics

(2013) Robert M. Plenge et al.   NATURE REVIEWS DRUG DISCOVERY

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

RNA-SeQC: RNA-seq metrics for quality control and process optimization

(2012) David S. DeLuca et al.   BIOINFORMATICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Patterns of Cis Regulatory Variation in Diverse Human Populations

(2012) Barbara E. Stranger et al.   PLoS Genetics

Interpreting Meta-Analyses of Genome-Wide Association Studies

(2012) Buhm Han et al.   PLoS Genetics

Genetic polymorphisms in AURKA and BRCA1 are associated with breast cancer susceptibility in a Chinese Han population

(2011) Yuan Ruan et al.   JOURNAL OF PATHOLOGY

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

(2011) Kerrin S Small et al.   NATURE GENETICS

Modeling sample variables with an Experimental Factor Ontology

(2010) James Malone et al.   BIOINFORMATICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

(2010) Josée Dupuis et al.   NATURE GENETICS

A Bayesian Framework to Account for Complex Non-Genetic Factors in Gene Expression Levels Greatly Increases Power in eQTL Studies

(2010) Oliver Stegle et al.   PLoS Computational Biology

A scaling normalization method for differential expression analysis of RNA-seq data

(2010) Mark D Robinson et al.   GENOME BIOLOGY

Differential expression analysis for sequence count data

(2010) Simon Anders et al.   GENOME BIOLOGY