Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

Variable prediction accuracy of polygenic scores within an ancestry group

(2020) Hakhamanesh Mostafavi et al.   eLife

Quantifying genetic effects on disease mediated by assayed gene expression levels

(2020) Douglas W. Yao et al.   NATURE GENETICS

The single-cell eQTLGen consortium

(2020) MGP van der Wijst et al.   eLife

Trans Effects on Gene Expression Can Drive Omnigenic Inheritance

(2019) Xuanyao Liu et al.   CELL

Extreme Polygenicity of Complex Traits Is Explained by Negative Selection

(2019) Luke J. O'Connor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Signatures of negative selection in the genetic architecture of human complex traits

(2018) Jian Zeng et al.   NATURE GENETICS

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

(2018) Ting Qi et al.   Nature Communications

Massive mining of publicly available RNA-seq data from human and mouse

(2018) Alexander Lachmann et al.   Nature Communications

Evidence for Weak Selective Constraint on Human Gene Expression

(2018) Emily C. Glassberg et al.   GENETICS

Comprehensive functional genomic resource and integrative model for the human brain

(2018) Daifeng Wang et al.   SCIENCE

Conditional eQTL analysis reveals allelic heterogeneity of gene expression

(2017) Rick Jansen et al.   HUMAN MOLECULAR GENETICS

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

Prospects for using risk scores in polygenic medicine

(2017) Cathryn M. Lewis et al.   Genome Medicine

CHiCP: a web-based tool for the integrative and interactive visualization of promoter capture Hi-C datasets

(2016) E. C. Schofield 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

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

(2016) William J. Astle et al.   CELL

Serine biosynthesis and transport defects

(2016) Ayman W. El-Hattab   MOLECULAR GENETICS AND METABOLISM

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

(2016) Marc Jan Bonder et al.   NATURE GENETICS

Identification of context-dependent expression quantitative trait loci in whole blood

(2016) Daria V Zhernakova et al.   NATURE GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Tissue-specific regulatory circuits reveal variable modular perturbations across complex diseases

(2016) Daniel Marbach et al.   NATURE METHODS

A scored human protein–protein interaction network to catalyze genomic interpretation

(2016) Taibo Li et al.   NATURE METHODS

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update

(2016) Maxim V. Kuleshov et al.   NUCLEIC ACIDS RESEARCH

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

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

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

(2016) Johannes Kettunen et al.   Nature Communications

Fast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics

(2016) David Lamparter et al.   PLoS Computational Biology

Dissecting the genetics of the human transcriptome identifies novel trait-relatedtrans-eQTLs and corroborates the regulatory relevance of non-protein coding loci

(2015) Holger Kirsten et al.   HUMAN MOLECULAR GENETICS

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

The human transcriptome across tissues and individuals

(2015) M. Mele et al.   SCIENCE

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

(2014) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

A novel posttranscriptional mechanism for dietary cholesterol-mediated suppression of liver LDL receptor expression

(2014) Amar Bahadur Singh et al.   JOURNAL OF LIPID RESEARCH

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

(2014) John R. B. Perry et al.   NATURE

An atlas of genetic influences on human blood metabolites

(2014) So-Youn Shin 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

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

(2013) Edward Y Chen et al.   BMC BIOINFORMATICS

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

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

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

Safety and pharmacodynamics of rontalizumab in patients with systemic lupus erythematosus: Results of a phase I, placebo-controlled, double-blind, dose-escalation study

(2012) Jacqueline M. McBride et al.   ARTHRITIS AND RHEUMATISM

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Seventy-five genetic loci influencing the human red blood cell

(2012) Pim van der Harst et al.   NATURE

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

(2012) Guangchuang Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

MixupMapper: correcting sample mix-ups in genome-wide datasets increases power to detect small genetic effects

(2011) Harm-Jan Westra et al.   BIOINFORMATICS

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

(2011) Morris A Swertz et al.   BMC BIOINFORMATICS

Optimally weighted Z-test is a powerful method for combining probabilities in meta-analysis

(2011) D. V. ZAYKIN   JOURNAL OF EVOLUTIONARY BIOLOGY

A User's Guide to the Encyclopedia of DNA Elements (ENCODE)

(2011)   PLOS BIOLOGY

Single-Tissue and Cross-Tissue Heritability of Gene Expression Via Identity-by-Descent in Related or Unrelated Individuals

(2011) Alkes L. Price et al.   PLoS Genetics

Genetic Loci Associated with Plasma Phospholipid n-3 Fatty Acids: A Meta-Analysis of Genome-Wide Association Studies from the CHARGE Consortium

(2011) Rozenn N. Lemaitre et al.   PLoS Genetics

ChEA: transcription factor regulation inferred from integrating genome-wide ChIP-X experiments

(2010) Alexander Lachmann et al.   BIOINFORMATICS

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

A Large-Scale, Consortium-Based Genomewide Association Study of Asthma

(2010) Miriam F. Moffatt et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2010) Mark D Robinson et al.   GENOME BIOLOGY

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

(2009) Vesela Gateva et al.   NATURE GENETICS

SHRiMP: Accurate Mapping of Short Color-space Reads

(2009) Stephen M. Rumble et al.   PLoS Computational Biology

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts

(2008) Vincenzo Leuzzi et al.   ANALYTICAL BIOCHEMISTRY