Advancing the use of genome-wide association studies for drug repurposing

Integration of genetically regulated gene expression and pharmacological library provides therapeutic drug candidates

(2021) Takahiro Konuma et al.   HUMAN MOLECULAR GENETICS

Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer’s disease pathogenesis

(2021) Aliza P. Wingo et al.   NATURE GENETICS

Genome-wide enhancer maps link risk variants to disease genes

(2021) Joseph Nasser et al.   NATURE

Leveraging expression from multiple tissues using sparse canonical correlation analysis and aggregate tests improves the power of transcriptome-wide association studies

(2021) Helian Feng et al.   PLoS Genetics

Genetic association and causal inference converge on hyperglycaemia as a modifiable factor to improve lung function

(2021) William R Reay et al.   eLife

A robust and efficient method for Mendelian randomization with hundreds of genetic variants

(2020) Stephen Burgess et al.   Nature Communications

Effect of Vitamin D on Blood Pressure and Hypertension in the General Population: An Update Meta-Analysis of Cohort Studies and Randomized Controlled Trials

(2020) Dongdong Zhang et al.   Preventing Chronic Disease

Pharmacological enrichment of polygenic risk for precision medicine in complex disorders

(2020) William R. Reay et al.   Scientific Reports

On-Label or Off-Label? Overcoming Regulatory and Financial Barriers to Bring Repurposed Medicines to Cancer Patients

(2020) Ciska Verbaanderd et al.   Frontiers in Pharmacology

A comparison of robust Mendelian randomization methods using summary data

(2020) Eric A. W. Slob et al.   GENETIC EPIDEMIOLOGY

Aromatase Inhibitors as Adjuvant Treatment for ER/PgR Positive Stage I Endometrial Carcinoma: A Retrospective Cohort Study

(2020) Laura Paleari et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

PS4DR: a multimodal workflow for identification and prioritization of drugs based on pathway signatures

(2020) Mohammad Asif Emon et al.   BMC BIOINFORMATICS

Genetic drug target validation using Mendelian randomisation

(2020) Amand F. Schmidt et al.   Nature Communications

Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics

(2020) Justin M. Luningham et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease

(2020) Galen E B Wright et al.   HUMAN MOLECULAR GENETICS

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases

(2020) Jie Zheng et al.   NATURE GENETICS

Genetics meets proteomics: perspectives for large population-based studies

(2020) Karsten Suhre et al.   NATURE REVIEWS GENETICS

Investigation of glycaemic traits in psychiatric disorders using Mendelian randomisation revealed a causal relationship with anorexia nervosa

(2020) Danielle M. Adams et al.   NEUROPSYCHOPHARMACOLOGY

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

(2020) Maya Ghoussaini et al.   NUCLEIC ACIDS RESEARCH

Cauchy combination test: a powerful test with analytic p-value calculation under arbitrary dependency structures

(2019) Yaowu Liu et al.   JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION

Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk

(2019) Iris E. Jansen et al.   NATURE GENETICS

A biologically-informed polygenic score identifies endophenotypes and clinical conditions associated with the insulin receptor function on specific brain regions

(2019) Shantala A. Hari Dass et al.   EBioMedicine

Efficacy and safety of denosumab compared to bisphosphonates in improving bone strength in postmenopausal osteoporosis: a systematic review

(2019) T Chandran et al.   SINGAPORE MEDICAL JOURNAL

Probabilistic fine-mapping of transcriptome-wide association studies

(2019) Nicholas Mancuso et al.   NATURE GENETICS

Opportunities and challenges for transcriptome-wide association studies

(2019) Michael Wainberg et al.   NATURE GENETICS

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

(2019) Rinki Ratnapriya et al.   NATURE GENETICS

A statistical framework for cross-tissue transcriptome-wide association analysis

(2019) Yiming Hu et al.   NATURE GENETICS

GREP: Genome for REPositioning drugs

(2019) Saori Sakaue et al.   BIOINFORMATICS

Genome-wide association study identifies 30 loci associated with bipolar disorder

(2019) Eli A. Stahl et al.   NATURE GENETICS

Polygenic prediction via Bayesian regression and continuous shrinkage priors

(2019) Tian Ge et al.   Nature Communications

Anti-estrogen Treatment in Endometrial Cancer: A Systematic Review

(2019) Willem Jan van Weelden et al.   Frontiers in Oncology

Integrating Mendelian randomization and multiple-trait colocalization to uncover cell-specific inflammatory drivers of autoimmune and atopic disease

(2019) Lucy M McGowan et al.   HUMAN MOLECULAR GENETICS

Mendelian randomization: the challenge of unobserved environmental confounds

(2019) Philipp D Koellinger et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Th17 Cells and the IL-23/IL-17 Axis in the Pathogenesis of Periodontitis and Immune-Mediated Inflammatory Diseases

(2019) Kübra Bunte et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A genetics-led approach defines the drug target landscape of 30 immune-related traits

(2019) Hai Fang et al.   NATURE GENETICS

A global overview of pleiotropy and genetic architecture in complex traits

(2019) Kyoko Watanabe et al.   NATURE GENETICS

Integrative transcriptome imputation reveals tissue-specific and shared biological mechanisms mediating susceptibility to complex traits

(2019) Wen Zhang et al.   Nature Communications

Modal-based estimation via heterogeneity-penalized weighting: model averaging for consistent and efficient estimation in Mendelian randomization when a plurality of candidate instruments are valid

(2018) Stephen Burgess et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases

(2018) Marie Verbanck et al.   NATURE GENETICS

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

(2018) Alexander Gusev et al.   NATURE GENETICS

From genome-wide associations to candidate causal variants by statistical fine-mapping

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

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

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

NSAID Exposure and Risk of Alzheimer's Disease: An Updated Meta-Analysis From Cohort Studies

(2018) Caixia Zhang et al.   Frontiers in Aging Neuroscience

The MR-Base platform supports systematic causal inference across the human phenome

(2018) Gibran Hemani et al.   eLife

OUP accepted manuscript

(2018)   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Genomic atlas of the human plasma proteome

(2018) Benjamin B. Sun et al.   NATURE

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

(2018) Jonas B. Nielsen et al.   NATURE GENETICS

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

(2018) Evangelos Evangelou et al.   NATURE GENETICS

Identification of nine new susceptibility loci for endometrial cancer

(2018) Tracy A. O’Mara et al.   Nature Communications

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes

(2018) Angli Xue et al.   Nature Communications

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

(2018) Nasim Mavaddat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Drug Targetor: a web interface to investigate the human druggome for over 500 phenotypes

(2018) Héléna A Gaspar et al.   BIOINFORMATICS

Distinguishing genetic correlation from causation across 52 diseases and complex traits

(2018) Luke J. O’Connor et al.   NATURE GENETICS

An atlas of genetic influences on osteoporosis in humans and mice

(2018) John A. Morris et al.   NATURE GENETICS

Drug repurposing: progress, challenges and recommendations

(2018) Sudeep Pushpakom et al.   NATURE REVIEWS DRUG DISCOVERY

Translating GWAS findings into therapies for depression and anxiety disorders: gene-set analyses reveal enrichment of psychiatric drug classes and implications for drug repositioning

(2018) Hon-Cheong So et al.   PSYCHOLOGICAL MEDICINE

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

(2018) Michael J. Gandal et al.   SCIENCE

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

(2018)   Nature Communications

Sensitivity Analyses for Robust Causal Inference from Mendelian Randomization Analyses with Multiple Genetic Variants

(2017) Stephen Burgess et al.   EPIDEMIOLOGY

Robust inference in summary data Mendelian randomization via the zero modal pleiotropy assumption

(2017) Fernando Pires Hartwig et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Induction therapy with the selective interleukin-23 inhibitor risankizumab in patients with moderate-to-severe Crohn's disease: a randomised, double-blind, placebo-controlled phase 2 study

(2017) Brian G Feagan et al.   LANCET

Association analysis identifies 65 new breast cancer risk loci

(2017) Kyriaki Michailidou et al.   NATURE

Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease

(2017) Urko M Marigorta et al.   NATURE GENETICS

Concepts, estimation and interpretation of SNP-based heritability

(2017) Jian Yang et al.   NATURE GENETICS

Reevaluation of SNP heritability in complex human traits

(2017) Doug Speed et al.   NATURE GENETICS

DrugBank 5.0: a major update to the DrugBank database for 2018

(2017) David S Wishart et al.   NUCLEIC ACIDS RESEARCH

Connecting genetic risk to disease end points through the human blood plasma proteome

(2017) Karsten Suhre et al.   Nature Communications

Drug enrichment and discovery from schizophrenia genome-wide association results: an analysis and visualisation approach

(2017) H. A. Gaspar et al.   Scientific Reports

Colocalization of GWAS and eQTL Signals Detects Target Genes

(2016) Farhad Hormozdiari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Systolic Blood Pressure and Risk of Type 2 Diabetes: A Mendelian Randomization Study

(2016) Rachael C. Aikens et al.   DIABETES

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

(2016) João Fadista et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Consistent Estimation in Mendelian Randomization with Some Invalid Instruments Using a Weighted Median Estimator

(2016) Jack Bowden et al.   GENETIC EPIDEMIOLOGY

Response to Hartwig and Davies

(2016) Jack Bowden et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Gene-set analysis based on the pharmacological profiles of drugs to identify repurposing opportunities in schizophrenia

(2016) Simone de Jong et al.   JOURNAL OF PSYCHOPHARMACOLOGY

Can you teach old drugs new tricks?

(2016) Nicola Nosengo   NATURE

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

The statistical properties of gene-set analysis

(2016) Christiaan A. de Leeuw et al.   NATURE REVIEWS GENETICS

Ustekinumab as Induction and Maintenance Therapy for Crohn’s Disease

(2016) Brian G. Feagan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Extraction and analysis of signatures from the Gene Expression Omnibus by the crowd

(2016) Zichen Wang 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

Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis

(2016) Luca A. Lotta et al.   PLOS MEDICINE

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

(2015) Bjarni J. Vilhjálmsson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Using published data in Mendelian randomization: a blueprint for efficient identification of causal risk factors

(2015) Stephen Burgess et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression

(2015) J. Bowden et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Selective targeting of the IL23 pathway: Generation and characterization of a novel high-affinity humanized anti-IL23A antibody

(2015) Sanjaya Singh et al.   mAbs

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

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

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

(2015) Eric R Gamazon et al.   NATURE GENETICS

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

Vitamin D and Risk of Multiple Sclerosis: A Mendelian Randomization Study

(2015) Lauren E. Mokry et al.   PLOS MEDICINE

Effect of Vitamin D Supplementation on Blood Pressure

(2015) Louise A. Beveridge et al.   JAMA Internal Medicine

Methodological Challenges in Mendelian Randomization

(2014) Tyler J. VanderWeele et al.   EPIDEMIOLOGY

IL-23 Promotes Maintenance but Not Commitment to the Th17 Lineage

(2014) G. L. Stritesky et al.   JOURNAL OF IMMUNOLOGY

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

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

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data

(2013) Stephen Burgess et al.   GENETIC EPIDEMIOLOGY

PGMRA: a web server for (phenotype x genotype) many-to-many relation analysis in GWAS

(2013) J. Arnedo et al.   NUCLEIC ACIDS RESEARCH

Power and Predictive Accuracy of Polygenic Risk Scores

(2013) Frank Dudbridge   PLoS Genetics

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

(2012) Steve Eyre et al.   NATURE GENETICS

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

(2012) Karol Estrada et al.   NATURE GENETICS

Ustekinumab Induction and Maintenance Therapy in Refractory Crohn's Disease

(2012) William J. Sandborn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GATES: A Rapid and Powerful Gene-Based Association Test Using Extended Simes Procedure

(2011) Miao-Xin Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impact and Therapeutic Potential of PPARs in Alzheimers Disease

(2011) Michael T. Heneka et al.   Current Neuropharmacology

The productivity crisis in pharmaceutical R&D

(2011) Fabio Pammolli et al.   NATURE REVIEWS DRUG DISCOVERY

A Versatile Gene-Based Test for Genome-wide Association Studies

(2010) Jimmy Z. Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Power and instrument strength requirements for Mendelian randomization studies using multiple genetic variants

(2010) Brandon L Pierce et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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

(2010) Tanya M. Teslovich et al.   NATURE

Estimation of effect size distribution from genome-wide association studies and implications for future discoveries

(2010) Ju-Hyun Park et al.   NATURE GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways

(2009) Rajan P Nair et al.   NATURE GENETICS

Detecting gene–gene interactions that underlie human diseases

(2009) Heather J Cordell   NATURE REVIEWS GENETICS

Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

(2009) E. Lieberman-Aiden et al.   SCIENCE

A Randomized Trial of Ustekinumab, a Human Interleukin-12/23 Monoclonal Antibody, in Patients With Moderate-to-Severe Crohn's Disease

(2008) William J. Sandborn et al.   GASTROENTEROLOGY

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

(2008) Itsik Pe'er et al.   GENETIC EPIDEMIOLOGY

Network pharmacology: the next paradigm in drug discovery

(2008) Andrew L Hopkins   Nature Chemical Biology