PhenomeXcan: Mapping the genome to the phenome through the transcriptome

Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses

(2020) Chris Wallace   PLoS Genetics

FBXO7 sensitivity of phenotypic traits elucidated by a hypomorphic allele

(2019) Carmen Ballesteros Reviriego et al.   PLoS One

Investigation of multi-trait associations using pathway-based analysis of GWAS summary statistics

(2019) Guangsheng Pei et al.   BMC GENOMICS

PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations

(2019) Mihir A Kamat et al.   BIOINFORMATICS

Systematic analysis of genes and diseases using PheWAS-Associated networks

(2019) Ali Khosravi et al.   COMPUTERS IN BIOLOGY AND MEDICINE

Hypertension in Thyroid Disorders

(2019) Eszter Berta et al.   Frontiers in Endocrinology

A global overview of pleiotropy and genetic architecture in complex traits

(2019) Kyoko Watanabe et al.   NATURE GENETICS

Translational genomics and precision medicine: Moving from the lab to the clinic

(2019) Eleftheria Zeggini et al.   SCIENCE

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology

(2019) Yosuke Tanigawa et al.   Nature Communications

Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative

(2018) Lars G. Fritsche et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PCSK9

(2018) Michael D. Shapiro et al.   CIRCULATION RESEARCH

Phenotyping of PER3 variants reveals widespread effects on circadian preference, sleep regulation, and health

(2018) Simon N. Archer et al.   SLEEP MEDICINE REVIEWS

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

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

An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies

(2018) Junfei Zhao et al.   Genome Medicine

SCN VIP Neurons Are Essential for Normal Light-Mediated Resetting of the Circadian System

(2018) Jeff R. Jones et al.   JOURNAL OF NEUROSCIENCE

Gene annotation bias impedes biomedical research

(2018) Winston A. Haynes et al.   Scientific Reports

Large-scale investigation of the reasons why potentially important genes are ignored

(2018) Thomas Stoeger et al.   PLOS BIOLOGY

Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals

(2018) Anurag Verma et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathophysiological mechanisms linking F-box only protein 7 (FBXO7) and Parkinson’s disease (PD)

(2018) Zhi Dong Zhou et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

An atlas of genetic associations in UK Biobank

(2018) Oriol Canela-Xandri et al.   NATURE GENETICS

Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions

(2018) Sarah M. Urbut et al.   NATURE GENETICS

OMIM.org: leveraging knowledge across phenotype–gene relationships

(2018) Joanna S Amberger et al.   NUCLEIC ACIDS RESEARCH

The Gene Ontology Resource: 20 years and still GOing strong

(2018)   NUCLEIC ACIDS RESEARCH

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

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

The genetics of circadian rhythms, sleep and health

(2017) Aarti Jagannath et al.   HUMAN MOLECULAR GENETICS

Software Application Profile: PHESANT: a tool for performing automated phenome scans in UK Biobank

(2017) Louise AC Millard et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Thyroid autoimmunity in bipolar disorder: A systematic review

(2017) Margherita Barbuti et al.   JOURNAL OF AFFECTIVE DISORDERS

Genetic determinants of inherited susceptibility to hypercholesterolemia – a comprehensive literature review

(2017) CS Paththinige et al.   Lipids in Health and Disease

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

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

(2017) Xiaoquan Wen et al.   PLoS Genetics

Cardiovascular safety and efficacy of the PCSK9 inhibitor evolocumab in patients with and without diabetes and the effect of evolocumab on glycaemia and risk of new-onset diabetes: a prespecified analysis of the FOURIER randomised controlled trial

(2017) Marc S Sabatine et al.   Lancet Diabetes & Endocrinology

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

(2017) Amand F Schmidt et al.   Lancet Diabetes & Endocrinology

Colocalization of GWAS and eQTL Signals Detects Target Genes

(2016) Farhad Hormozdiari 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

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

(2016) Zhihong Zhu et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

How far from the SNP may the causative genes be?

(2016) Aharon Brodie et al.   NUCLEIC ACIDS RESEARCH

GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person

(2016) Youna Hu et al.   Nature Communications

Approximately independent linkage disequilibrium blocks in human populations

(2015) Tomaz Berisa et al.   BIOINFORMATICS

Defective erythropoiesis in a mouse model of reduced Fbxo7 expression due to decreased p27 expression

(2015) Suzanne J Randle et al.   JOURNAL OF PATHOLOGY

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

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

(2015) Eric R Gamazon et al.   NATURE GENETICS

Thyroid hormones are associated with longitudinal cognitive change in an urban adult population

(2015) May A. Beydoun et al.   NEUROBIOLOGY OF AGING

Genome-wide association study identifies a PSMD3 variant associated with neutropenia in interferon-based therapy for chronic hepatitis C

(2014) Etsuko Iio et al.   HUMAN GENETICS

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

(2013) Joshua C Denny et al.   NATURE BIOTECHNOLOGY

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Genetic Loci Implicated in Erythroid Differentiation and Cell Cycle Regulation Are Associated With Red Blood Cell Traits

(2012) Keyue Ding et al.   MAYO CLINIC PROCEEDINGS

Seventy-five genetic loci influencing the human red blood cell

(2012) Pim van der Harst et al.   NATURE

Targeted disruption of Zfp36l2, encoding a CCCH tandem zinc finger RNA-binding protein, results in defective hematopoiesis

(2009) D. J. Stumpo et al.   BLOOD

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

(2009) Nicole Soranzo et al.   NATURE GENETICS

The NCBI BioSystems database

(2009) Lewis Y. Geer et al.   NUCLEIC ACIDS RESEARCH