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PhenomeXcan: Mapping the genome to the phenome through the transcriptome
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/path.4571openalex-snapshot
Defective erythropoiesis in a mouse model of reduced Fbxo7 expression due to decreased p27 expression
inferredcites →https://doi.org/10.1007/s00439-014-1520-7openalex-snapshot
Genome-wide association study identifies a PSMD3 variant associated with neutropenia in interferon-based therapy for chronic hepatitis C
inferredcites →https://doi.org/10.1016/j.abb.2005.06.023openalex-snapshot
Structural and functional aspects of thyroid peroxidase
inferredcites →https://doi.org/10.1016/j.ajhg.2016.10.003openalex-snapshot
Colocalization of GWAS and eQTL Signals Detects Target Genes
inferredcites →https://doi.org/10.1016/j.ajhg.2017.06.005openalex-snapshot
10 Years of GWAS Discovery: Biology, Function, and Translation
inferredcites →https://doi.org/10.1016/j.ajhg.2018.04.001openalex-snapshot
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative
inferredcites →https://doi.org/10.1016/j.ajhg.2018.11.006openalex-snapshot
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals
inferredcites →https://doi.org/10.1016/j.cell.2007.04.030openalex-snapshot
Circadian Mutant Overtime Reveals F-box Protein FBXL3 Regulation of Cryptochrome and Period Gene Expression
inferredcites →https://doi.org/10.1016/j.compbiomed.2019.04.037openalex-snapshot
Systematic analysis of genes and diseases using PheWAS-Associated networks
inferredcites →https://doi.org/10.1016/j.cub.2016.11.008openalex-snapshot
An LHX1-Regulated Transcriptional Network Controls Sleep/Wake Coupling and Thermal Resistance of the Central Circadian Clockworks
inferredcites →https://doi.org/10.1016/j.jad.2017.06.019openalex-snapshot
Thyroid autoimmunity in bipolar disorder: A systematic review
inferredcites →https://doi.org/10.1016/j.mayocp.2012.01.016openalex-snapshot
Genetic Loci Implicated in Erythroid Differentiation and Cell Cycle Regulation Are Associated With Red Blood Cell Traits
inferredcites →https://doi.org/10.1016/j.mrrev.2018.10.001openalex-snapshot
Pathophysiological mechanisms linking F-box only protein 7 (FBXO7) and Parkinson’s disease (PD)
inferredcites →https://doi.org/10.1016/j.neurobiolaging.2015.08.002openalex-snapshot
Thyroid hormones are associated with longitudinal cognitive change in an urban adult population
inferredcites →https://doi.org/10.1016/j.smrv.2017.10.008openalex-snapshot
Phenotyping of PER3 variants reveals widespread effects on circadian preference, sleep regulation, and health
inferredcites →https://doi.org/10.1016/s2213-8587(16)30396-5openalex-snapshot
PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study
inferredcites →https://doi.org/10.1016/s2213-8587(17)30313-3openalex-snapshot
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
inferredcites →https://doi.org/10.1038/nature11677openalex-snapshot
Seventy-five genetic loci influencing the human red blood cell
inferredcites →https://doi.org/10.1038/nbt.2749openalex-snapshot
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
inferredcites →https://doi.org/10.1038/ncomms10448openalex-snapshot
GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person
inferredcites →https://doi.org/10.1038/ng.3314openalex-snapshot
The support of human genetic evidence for approved drug indications
inferredcites →https://doi.org/10.1038/ng.3367openalex-snapshot
A gene-based association method for mapping traits using reference transcriptome data
inferredcites →https://doi.org/10.1038/ng.3506openalex-snapshot
Integrative approaches for large-scale transcriptome-wide association studies
inferredcites →https://doi.org/10.1038/ng.3538openalex-snapshot
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
inferredcites →https://doi.org/10.1038/ng.467openalex-snapshot
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
inferredcites →https://doi.org/10.1038/s41467-019-11953-9openalex-snapshot
Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology
inferredcites →https://doi.org/10.1038/s41586-018-0579-zopenalex-snapshot
The UK Biobank resource with deep phenotyping and genomic data
inferredcites →https://doi.org/10.1038/s41588-018-0248-zopenalex-snapshot
An atlas of genetic associations in UK Biobank
inferredcites →https://doi.org/10.1038/s41588-018-0268-8openalex-snapshot
Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions
inferredcites →https://doi.org/10.1038/s41588-019-0481-0openalex-snapshot
A global overview of pleiotropy and genetic architecture in complex traits
inferredcites →https://doi.org/10.1038/s41598-018-19333-xopenalex-snapshot
Gene annotation bias impedes biomedical research
inferredcites →https://doi.org/10.1042/bcj20160498openalex-snapshot
Ubiquitin and Parkinson's disease through the looking glass of genetics
inferredcites →https://doi.org/10.1093/bioinformatics/btv546openalex-snapshot
Approximately independent linkage disequilibrium blocks in human populations
inferredcites →https://doi.org/10.1093/bioinformatics/btz469openalex-snapshot
PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations
inferredcites →https://doi.org/10.1093/hmg/ddx240openalex-snapshot
The genetics of circadian rhythms, sleep and health
inferredcites →https://doi.org/10.1093/ije/dyx204openalex-snapshot
Software Application Profile: PHESANT: a tool for performing automated phenome scans in UK Biobank
inferredcites →https://doi.org/10.1093/nar/gkw500openalex-snapshot
How far from the SNP may the causative genes be?
inferredcites →https://doi.org/10.1093/nar/gkx1153openalex-snapshot
ClinVar: improving access to variant interpretations and supporting evidence
inferredcites →https://doi.org/10.1093/nar/gky1055openalex-snapshot
The Gene Ontology Resource: 20 years and still GOing strong
inferredcites →https://doi.org/10.1093/nar/gky1105openalex-snapshot
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
inferredcites →https://doi.org/10.1093/nar/gky1120openalex-snapshot
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
inferredcites →https://doi.org/10.1093/nar/gky1151openalex-snapshot
OMIM.org: leveraging knowledge across phenotype–gene relationships
inferredcites →https://doi.org/10.1101/311332openalex-snapshot
HOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases
inferredcites →https://doi.org/10.1101/316471openalex-snapshot
Bayesian Multi-SNP Genetic Association Analysis: Control of FDR and Use of Summary Statistics
inferredcites →https://doi.org/10.1101/814350openalex-snapshot
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
inferredcites →https://doi.org/10.1126/science.aax4588openalex-snapshot
Translational genomics and precision medicine: Moving from the lab to the clinic
inferredcites →https://doi.org/10.1136/amiajnl-2013-002155openalex-snapshot
Bionimbus: a cloud for managing, analyzing and sharing large genomics datasets
inferredcites →https://doi.org/10.1136/thorax.58.6.533openalex-snapshot
Respiratory symptoms in patients with treated hypothyroidism and inflammatory bowel disease
inferredcites →https://doi.org/10.1161/circgen.118.002178openalex-snapshot
Functional Assays to Screen and Dissect Genomic Hits
inferredcites →https://doi.org/10.1177/088307380101601001openalex-snapshot
Sleep and Its Disturbance in a Variant Form of Late Infantile Neuronal Ceroid Lipofuscinosis (CLNS)
inferredcites →https://doi.org/10.1182/blood-2009-04-214619openalex-snapshot
Targeted disruption of Zfp36l2, encoding a CCCH tandem zinc finger RNA-binding protein, results in defective hematopoiesis
inferredcites →https://doi.org/10.1186/s12864-018-5373-7openalex-snapshot
Investigation of multi-trait associations using pathway-based analysis of GWAS summary statistics
inferredcites →https://doi.org/10.1186/s12944-017-0488-4openalex-snapshot
Genetic determinants of inherited susceptibility to hypercholesterolemia – a comprehensive literature review
inferredcites →https://doi.org/10.1186/s13073-018-0513-xopenalex-snapshot
An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies
inferredcites →https://doi.org/10.1214/16-aoas952openalex-snapshot
Molecular QTL discovery incorporating genomic annotations using Bayesian false discovery rate control
inferredcites →https://doi.org/10.1371/journal.pbio.2006643openalex-snapshot
Large-scale investigation of the reasons why potentially important genes are ignored
inferredcites →https://doi.org/10.1371/journal.pgen.1006646openalex-snapshot
Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization
inferredcites →https://doi.org/10.1371/journal.pgen.1008720openalex-snapshot
Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses
inferredcites →https://doi.org/10.1371/journal.pone.0212481openalex-snapshot
FBXO7 sensitivity of phenotypic traits elucidated by a hypomorphic allele
inferredcites →https://doi.org/10.1523/jneurosci.1322-18.2018openalex-snapshot
SCN VIP Neurons Are Essential for Normal Light-Mediated Resetting of the Circadian System
inferredcites →https://doi.org/10.3389/fendo.2019.00482openalex-snapshot
Hypertension in Thyroid Disorders
inferredcites →https://doi.org/10.34944/dspace/4648openalex-snapshot
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1007/s00401-019-02110-zopenalex-snapshot
Overlapping genetic architecture between Parkinson disease and melanoma
inferred← citeshttps://doi.org/10.1007/s11427-023-2522-8openalex-snapshot
An overview of detecting gene-trait associations by integrating GWAS summary statistics and eQTLs
inferred← citeshttps://doi.org/10.1007/s11914-021-00684-wopenalex-snapshot
Using “-omics” Data to Inform Genome-wide Association Studies (GWASs) in the Osteoporosis Field
inferred← citeshttps://doi.org/10.1016/j.ajhg.2020.11.012openalex-snapshot
Probabilistic colocalization of genetic variants from complex and molecular traits: promise and limitations
inferred← citeshttps://doi.org/10.1016/j.isci.2025.112079openalex-snapshot
Genetic modulation of protein expression in rat brain
inferred← citeshttps://doi.org/10.1016/j.jid.2021.03.027openalex-snapshot
Triangulating Molecular Evidence to Prioritize Candidate Causal Genes at Established Atopic Dermatitis Loci
inferred← citeshttps://doi.org/10.1038/s10038-023-01120-wopenalex-snapshot
Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome
inferred← citeshttps://doi.org/10.1038/s41588-022-01248-zopenalex-snapshot
DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits
inferred← citeshttps://doi.org/10.1038/s41588-023-01585-7openalex-snapshot
A compendium of genetic regulatory effects across pig tissues
inferred← citeshttps://doi.org/10.1038/s41588-025-02267-2openalex-snapshot
Large-scale genome-wide analyses of stuttering
inferred← citeshttps://doi.org/10.1038/s41592-024-02341-3openalex-snapshot
Contextual AI models for single-cell protein biology
inferred← citeshttps://doi.org/10.1038/s41593-022-01182-7openalex-snapshot
Analysis of the caudate nucleus transcriptome in individuals with schizophrenia highlights effects of antipsychotics and new risk genes
inferred← citeshttps://doi.org/10.1093/bioinformatics/btaa1096openalex-snapshot
MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
inferred← citeshttps://doi.org/10.1097/jsm.0000000000001012openalex-snapshot
Genomics and Biology of Exercise, Where Are We Now?
inferred← citeshttps://doi.org/10.1111/joim.13187openalex-snapshot
Genome‐wide search for genes affecting the age at diagnosis of type 1 diabetes
inferred← citeshttps://doi.org/10.1186/s13059-020-02026-yopenalex-snapshot
PTWAS: investigating tissue-relevant causal molecular mechanisms of complex traits using probabilistic TWAS analysis
inferred← citeshttps://doi.org/10.1186/s13073-022-01124-9openalex-snapshot
Network reconstruction for trans acting genetic loci using multi-omics data and prior information
inferred← citeshttps://doi.org/10.20944/preprints202402.1325.v1openalex-snapshot
Trans-eQTLs Can Be Used to Untangle the Problem of Coexpression-Causality
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