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

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The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) is …
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scholarly articleQ13442814

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P8978DBLP publication IDjournals/nar/MacArthurBCGHHJ17
P356DOI10.1093/NAR/GKW1133
P932PMC publication ID5210590
P698PubMed publication ID27899670

P50authorHelen ParkinsonQ47502891
Joannella MoralesQ47503361
Annalisa MilanoQ51747150
Laurent GilQ55163289
Emma HastingsQ55473091
Danielle WelterQ55473247
Aoife C McMahonQ56910092
Emily H BowlerQ57999163
Jacqueline MacArthurQ57999959
Peggy HallQ67215832
Heather A JunkinsQ67215835
Lucia A HindorffQ67215851
Zoë M PendlingtonQ91179315
Paul FlicekQ28359506
Fiona CunninghamQ30347508
Maria CerezoQ30792640
Tony BurdettQ47502890
P2860cites workA navigator for human genome epidemiology.Q51895975
Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsQ22066284
Complement factor H polymorphism in age-related macular degenerationQ24553334
The NHGRI GWAS Catalog, a curated resource of SNP-trait associationsQ24568334
Modeling sample variables with an Experimental Factor OntologyQ24596875
GENCODE: the reference human genome annotation for The ENCODE ProjectQ24608743
Europe PMC: a full-text literature database for the life sciences and platform for innovationQ28251162
A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery diseaseQ28267020
An Integrated Data Driven Approach to Drug Repositioning Using Gene-Disease AssociationsQ28552224
Ensembl 2016Q28603093
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47Q28943305
Large-scale genotyping identifies 41 new loci associated with breast cancer riskQ29416989
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibilityQ29417007
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancersQ30300404
Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association StudiesQ30374341
Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resourcesQ30559712
The Ensembl REST API: Ensembl Data for Any LanguageQ30853774
The UCSC Genome Browser database: 2015 updateQ30872157
RefSeq: an update on mammalian reference sequencesQ35047930
Abundant pleiotropy in human complex diseases and traits.Q35542127
GWASdb v2: an update database for human genetic variants identified by genome-wide association studiesQ36435017
P275copyright licenseCreative Commons Attribution-NonCommercial 4.0 InternationalQ34179348
P6216copyright statuscopyrightedQ50423863
P433issueD1
P407language of work or nameEnglishQ1860
P921main subjectgenome-wide association studyQ1098876
P304page(s)D896-D901
P577publication date2016-11-29
P1433published inNucleic Acids ResearchQ135122
P1476titleThe new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
P478volume45

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Q48298179Evolutionarily derived networks to inform disease pathways.
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Q92137491Exome-Wide Rare Variant Analysis From the DiscovEHR Study Identifies Novel Candidate Predisposition Genes for Endometrial Cancer
Q64100517Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach
Q96172072Exploring and visualizing large-scale genetic associations by using PheWeb
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Q58704255Exploring the Role of Fallopian Ciliated Cells in the Pathogenesis of High-Grade Serous Ovarian Cancer
Q60044204Exploring the genetic basis of human population differences in DNA methylation and their causal impact on immune gene regulation
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Q62796559Extensive Regulatory Changes in Genes Affecting Vocal and Facial Anatomy Separate Modern from Archaic Humans
Q90084031Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
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Q42375624Finding the Sources of Missing Heritability within Rare Variants Through Simulation
Q88911128From genome-wide associations to candidate causal variants by statistical fine-mapping
Q64249673Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21
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Q91933321GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network
Q91044925GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
Q92602565GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits
Q59789897GWAS identifies 14 loci for device-measured physical activity and sleep duration
Q91995911GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI
Q91666421GWAS studies reveal a possible genetic link between cancer and suicide attempt
Q55474442GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits.
Q92178716GWEHS: A Genome-Wide Effect Sizes and Heritability Screener
Q61455067GenCoNet – A Graph Database for the Analysis of Comorbidities by Gene Networks
Q61804723GenESysV: a fast, intuitive and scalable genome exploration open source tool for variants generated from high-throughput sequencing projects
Q57170220Gene editing in the context of an increasingly complex genome
Q97652735Gene mapping and functional annotation of GWAS of oral ulcers using FUMA software
Q88691998Gene regulation in the 3D genome
Q60915595Gene-Based Nonparametric Testing of Interactions Using Distance Correlation Coefficient in Case-Control Association Studies
Q90044748Gene-diet interactions associated with complex trait variation in an advanced intercross outbred mouse line
Q89085849Gene-environment interactions in case-control studies with silent disease
Q38701582Gene2Function: An Integrated Online Resource for Gene Function Discovery
Q55353050Genes Whose Gain or Loss-Of-Function Increases Skeletal Muscle Mass in Mice: A Systematic Literature Review.
Q91732560Genes with High Network Connectivity Are Enriched for Disease Heritability
Q92725660Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct
Q60949388Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients
Q90604208Genetic Associations in Four Decades of Multi-environment Trials Reveal Agronomic Trait Evolution in Common Bean
Q89126407Genetic Regulation of Plasma Lipid Species and Their Association with Metabolic Phenotypes
Q64969525Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.
Q90156977Genetic Variants Associated With Vincristine-Induced Peripheral Neuropathy in Two Populations of Children With Acute Lymphoblastic Leukemia
Q64121072Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions
Q49608463Genetic aetiology of glycaemic traits: approaches and insights.
Q92886001Genetic analyses of diverse populations improves discovery for complex traits
Q64051930Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms
Q59350774Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of transcripts under balancing selection
Q57143829Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
Q98568689Genetic and functional insights into the fractal structure of the heart
Q58688956Genetic architecture of gene expression traits across diverse populations
Q90271646Genetic associations of perinatal pain and depression
Q99608360Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults
Q92095521Genetic correlations of psychiatric traits with body composition and glycemic traits are sex- and age-dependent
Q92221733Genetic determinants of beverage consumption: Implications for nutrition and health
Q64953238Genetic determinants of low vitamin B12 levels in Alzheimer's disease risk.
Q59340592Genetic disease risks can be misestimated across global populations
Q59548011Genetic effects and gene-by-education interactions on episodic memory performance and decline in an aging population
Q64911453Genetic heterogeneity of Alzheimer's disease in subjects with and without hypertension.
Q59792890Genetic identification of Ly75 as a novel quantitative trait gene for resistance to obesity in mice
Q91908143Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
Q94465937Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells
Q50316471Genetic risk for Alzheimer's disease is concentrated in specific macrophage and microglial transcriptional networks.
Q64073389Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour
Q41993901Genetic susceptibility to infectious diseases: Current status and future perspectives from genome-wide approaches.
Q96577273Genetic variants associated with alcohol dependence co-ordinate regulation of ADH genes in gastrointestinal and adipose tissues
Q51759140Genetic variants in mRNA untranslated regions.
Q60053983Genetic variants influence on the placenta regulatory landscape
Q99566921Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma
Q40950955Genetic variation in uncontrolled childhood asthma despite ICS treatment
Q56022528Genetic-Driven Druggable Target Identification and Validation
Q92498327Genetically regulated gene expression underlies lipid traits in Hispanic cohorts
Q98829709Genetics meets proteomics: perspectives for large population-based studies
Q55137371Genetics of Cardiovascular Disease: Fishing for Causality.
Q90318433Genetics of common complex kidney stone disease: insights from genome-wide association studies
Q42699111Genome Variation Map: a data repository of genome variations in BIG Data Center
Q64069052Genome maps across 26 human populations reveal population-specific patterns of structural variation
Q89800608Genome-Wide Association Study of Pain in Parkinson's Disease Implicates TRPM8 as a Risk Factor
Q55110896Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women.
Q90268216Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
Q54108240Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.
Q49358937Genome-wide analysis of PDX1 target genes in human pancreatic progenitors.
Q91908180Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways
Q47549679Genome-wide analysis of self-reported risk-taking behaviour and cross-disorder genetic correlations in the UK Biobank cohort.
Q60460217Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence
Q57417302Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes
Q40141021Genome-wide association analysis identifies a GLUL haplotype for familial hepatitis B virus-related hepatocellular carcinoma.
Q92527797Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
Q52310582Genome-wide association for testis weight in the diversity outbred mouse population.
Q90408584Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank
Q57277952Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
Q56967082Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence
Q52319652Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.
Q64064553Genome-wide association studies for 30 haematological and blood clinical-biochemical traits in Large White pigs reveal genomic regions affecting intermediate phenotypes
Q57283991Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci
Q63433064Genome-wide association study identifies 30 loci associated with bipolar disorder.
Q61124910Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects
Q100431710Genome-wide association study of cardiovascular disease in testicular cancer patients treated with platinum-based chemotherapy
Q63433278Genome-wide association study of medication-use and associated disease in the UK Biobank
Q48215987Genome-wide association study of self-reported food reactions in Japanese identifies shrimp and peach specific loci in the HLA-DR/DQ gene region
Q38914048Genome-wide association study of sepsis in extremely premature infants
Q92727426Genome-wide enriched pathway analysis of acute post-radiotherapy pain in breast cancer patients: a prospective cohort study
Q90183136Genome-wide identification of DNA methylation QTLs in whole blood highlights pathways for cardiovascular disease
Q57113583Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts
Q47556039Genome-wide meta-analyses of stratified depression in Generation Scotland and UK Biobank.
Q89636857Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma
Q93063639Genome-wide profiling of DNA methylome and transcriptome in peripheral blood monocytes for major depression: A Monozygotic Discordant Twin Study
Q57025283Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History
Q64236058Genomic Predictors of Asthma Phenotypes and Treatment Response
Q57813944Genomic and Phenomic Research in the 21st Century
Q60908055Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances
Q60536555Genomics of body fat percentage may contribute to sex bias in anorexia nervosa
Q93000887Genomics of disease risk in globally diverse populations
Q102220492Genomics of hypertension: the road to precision medicine
Q92875638Genotype Imputation in Genome-Wide Association Studies
Q91525724Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico
Q55518822GlobAl Distribution of GEnetic Traits (GADGET) web server: polygenic trait scores worldwide.
Q57161831Global landscape of mouse and human cytokine transcriptional regulation
Q52341727Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases.
Q91683266HACER: an atlas of human active enhancers to interpret regulatory variants
Q55114605Habitual coffee consumption and cognitive function: a Mendelian randomization meta-analysis in up to 415,530 participants.
Q30491667Harnessing public domain data to discover and validate therapeutic targets
Q40045609HbA1c for type 2 diabetes diagnosis in Africans and African Americans: Personalized medicine NOW!
Q91673577Hepatocyte gene expression and DNA methylation as ancestry-dependent mechanisms in African Americans
Q56985336Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits
Q64226613High resolution discovery of chromatin interactions
Q101051329High-depth African genomes inform human migration and health
Q93117338High-throughput identification of human SNPs affecting regulatory element activity
Q41203183Human Retrotransposon Insertion Polymorphisms Are Associated with Health and Disease via Gene Regulatory Phenotypes
Q57251071Human genes: Time to follow the roads less traveled?
Q93002927HumanNet v2: human gene networks for disease research
Q55397456IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
Q58800816INFERNO: inferring the molecular mechanisms of noncoding genetic variants
Q100512295Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk
Q47613195Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population
Q64111505Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils
Q90352780Identification of a robust non-coding RNA signature in diagnosing autism spectrum disorder by cross-validation of microarray data from peripheral blood samples
Q60045546Identification of deleterious and regulatory genomic variations in known asthma loci
Q91879842Identification of disease-associated loci using machine learning for genotype and network data integration
Q57677495Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue
Q49561012Identification of genes associated with susceptibility to Mycobacterium avium ssp. paratuberculosis (Map) tissue infection in Holstein cattle using gene set enrichment analysis-SNP.
Q91620801Identification of genetic overlap and novel risk loci for attention-deficit/hyperactivity disorder and bipolar disorder
Q90099986Identification of human genetic variants controlling circular RNA expression
Q92152092Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population
Q89349562Identification of nine novel loci related to hematological traits in a Japanese population
Q46020569Identification of pleiotropic cancer susceptibility variants from genome-wide association studies reveals functional characteristics.
Q89026352Identification of six novel susceptibility loci for dyslipidemia using longitudinal exome-wide association studies in a Japanese population
Q47562011Identification of three genetic variants as novel susceptibility loci for body mass index in a Japanese population
Q92550957Identifying Putative Susceptibility Genes and Evaluating Their Associations with Somatic Mutations in Human Cancers
Q94561685Identifying Shared Risk Genes for Asthma, Hay Fever, and Eczema by Multi-Trait and Multiomic Association Analyses
Q92229859Identifying cross-disease components of genetic risk across hospital data in the UK Biobank
Q96017826Identifying modifier genes for hypertrophic cardiomyopathy
Q52655627Impact of atopy on risk of glioma: a Mendelian randomisation study.
Q49990965Implementing genome-driven personalized cardiology in clinical practice.
Q55122063Implications of publicly available genomic data resources in searching for therapeutic targets of obesity and type 2 diabetes.
Q101452711Implications of venous thromboembolism GWAS reported genetic makeup in the clinical outcome of ovarian cancer patients
Q104111130Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
Q93089768Inferring Interaction Networks From Multi-Omics Data
Q90929709Influence of genetic polymorphism on transcriptional enhancer activity in the malaria vector Anopheles coluzzii
Q92320730Influence of tissue context on gene prioritization for predicted transcriptome-wide association studies
Q92024462Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania
Q64994676Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci.
Q92139936Integrated analysis of genomics, longitudinal metabolomics, and Alzheimer's risk factors among 1,111 cohort participants
Q90401782Integrating Genome-Wide Association Studies With Pathway Analysis and Gene Expression Analysis Highlights Novel Osteoarthritis Risk Pathways and Genes
Q91776481Integrating biomedical research and electronic health records to create knowledge-based biologically meaningful machine-readable embeddings
Q48092056Integrating eQTL data with GWAS summary statistics in pathway-based analysis with application to schizophrenia
Q90478903Integrating molecular networks with genetic variant interpretation for precision medicine
Q89717694Integrative comparison of the genomic and transcriptomic landscape between prostate cancer patients of predominantly African or European genetic ancestry
Q90883907Interval breast cancer is associated with other types of tumors
Q60950970Into the Wild: GWAS Exploration of Non-coding RNAs
Q94452107Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease
Q61799716Investigation of multi-trait associations using pathway-based analysis of GWAS summary statistics
Q64066372Jackknife Model Averaging Prediction Methods for Complex Phenotypes with Gene Expression Levels by Integrating External Pathway Information
Q55054458Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.
Q90628684KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern
Q47317001LDassoc: an online tool for interactively exploring genome-wide association study results and prioritizing variants for functional investigation
Q98164638Landscape of cohesin-mediated chromatin loops in the human genome
Q64902111Learning Causal Biological Networks With the Principle of Mendelian Randomization.
Q49836976Lessons from CKD-Related Genetic Association Studies-Moving Forward.
Q49877418Lessons from ten years of genome-wide association studies of asthma.
Q64077219Leveraging chromatin accessibility for transcriptional regulatory network inference in T Helper 17 Cells
Q89882711Leveraging genome-wide data to investigate differences between opioid use vs. opioid dependence in 41,176 individuals from the Psychiatric Genomics Consortium
Q48138610Lnc2Catlas: an atlas of long noncoding RNAs associated with risk of cancers
Q90671210Local ancestry at APOE modifies Alzheimer's disease risk in Caribbean Hispanics
Q47147592Local ancestry transitions modify snp-trait associations
Q42682304Locally epistatic models for genome-wide prediction and association by importance sampling
Q57635195Long genes linked to autism spectrum disorders harbor broad enhancer-like chromatin domains
Q97542052MAGGIE: leveraging genetic variation to identify DNA sequence motifs mediating transcription factor binding and function
Q92531455MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells
Q91179083MERIT: Systematic Analysis and Characterization of Mutational Effect on RNA Interactome Topology
Q51166474MTCH2 is a conserved regulator of lipid homeostasis.
Q91790305Mapping the Germline and Somatic Mutation Interaction Landscape in Indolent and Aggressive Prostate Cancers
Q64086662Maternal circadian disruption is associated with variation in placental DNA methylation
Q46008109MeT-DB V2.0: elucidating context-specific functions of N6-methyl-adenosine methyltranscriptome.
Q92491787Mechanisms of tissue and cell-type specificity in heritable traits and diseases
Q47686766Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk.
Q90380004Mendelian Randomization Identifies CpG Methylation Sites With Mediation Effects for Genetic Influences on BMD in Peripheral Blood Monocytes
Q64086212Mendelian randomization analysis using mixture models for robust and efficient estimation of causal effects
Q92153553Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
Q63352621Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci
Q64252507Metabolomics Approaches for the Diagnosis and Understanding of Kidney Diseases
Q88506009Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese
Q90242516Model-based clustering for identifying disease-associated SNPs in case-control genome-wide association studies
Q60923169Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study
Q64077202Most chromatin interactions are not in linkage disequilibrium
Q92173938Moving from one to many: insights from the growing list of pleiotropic cancer risk genes
Q48502389Moving towards a molecular taxonomy of autoimmune rheumatic diseases.
Q56361973Multi-ethnic genome-wide association study for atrial fibrillation
Q97527193Multi-method genome- and epigenome-wide studies of inflammatory protein levels in healthy older adults
Q46496028Multiethnic polygenic risk scores improve risk prediction in diverse populations.
Q42373934Multiobjective differential evolution-based multifactor dimensionality reduction for detecting gene-gene interactions
Q64228207Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function
Q58080803Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population
Q90207100Myopia genetics in genome-wide association and post-genome-wide association study era
Q97905413Neanderthal introgression reintroduced functional ancestral alleles lost in Eurasian populations
Q91908132New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
Q96762033Nonclinical cardiovascular safety evaluation of romosozumab, an inhibitor of sclerostin for the treatment of osteoporosis in postmenopausal women at high risk of fracture
Q90171195Novel Haplotype Indicator for End-Stage Renal Disease Progression among Saudi Patients
Q50421263Novel and Haplotype Specific MicroRNAs Encoded by the Major Histocompatibility Complex.
Q52674242Novel candidate genes important for asthma and hypertension comorbidity revealed from associative gene networks.
Q60923535Novel disease syndromes unveiled by integrative multiscale network analysis of diseases sharing molecular effectors and comorbidities
Q55317166Novel functional variants at the GWAS-implicated loci might confer risk to major depressive disorder, bipolar affective disorder and schizophrenia.
Q92606686Omics in Neurodegenerative Disease: Hope or Hype?
Q90261614On the differences between mega- and meta-imputation and analysis exemplified on the genetics of age-related macular degeneration
Q63979762Open Targets Platform: new developments and updates two years on
Q92506513Opportunities, resources, and techniques for implementing genomics in clinical care
Q64910524Osteogenesis depends on commissioning of a network of stem cell transcription factors that act as repressors of adipogenesis.
Q42700223Overcoming Obstacles to Drug Repositioning in Japan.
Q61797508Oxytocin pathway gene networks in the human brain
Q47209985PGA: post-GWAS analysis for disease gene identification
Q90477273PGG.Han: the Han Chinese genome database and analysis platform
Q64943665Pancan-meQTL: a database to systematically evaluate the effects of genetic variants on methylation in human cancer.
Q47148236PancanQTL: systematic identification of cis-eQTLs and trans-eQTLs in 33 cancer types.
Q91804593Pathway analysis of rare variants for the clustered phenotypes by using hierarchical structured components analysis
Q91663954Pathway and network embedding methods for prioritizing psychiatric drugs
Q88605495Pathway perturbations in signaling networks: Linking genotype to phenotype
Q88959868Patient Similarity Networks for Precision Medicine
Q47583316Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution
Q55342389Performance of epistasis detection methods in semi-simulated GWAS.
Q47676203Perivascular neurotransmitters: Regulation of cerebral blood flow and role in primary headaches.
Q91616137Personalized medicine in cardio-oncology: the role of induced pluripotent stem cell
Q89490250Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis
Q56985060Pharmacogenomics in epithelial ovarian cancer first-line treatment outcome: validation of GWAS-associated NRG3 rs1649942 and BRE rs7572644 variants in an independent cohort
Q52615322PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.
Q92981325PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations
Q90049726Phosphoinositides: Regulators of Nervous System Function in Health and Disease
Q58783378Pigmentation phototype and prostate and breast cancer in a select Spanish population-A Mendelian randomization analysis in the MCC-Spain study
Q57803141Plasma B-vitamin and one-carbon metabolites and risk of breast cancer before and after folic acid fortification in the US
Q52326277Pleiotropic Mapping and Annotation Selection in Genome-wide Association Studies with Penalized Gaussian Mixture Models.
Q58760709Polygenic risk score for predicting weight loss after bariatric surgery
Q60932187Population structure in genetic studies: Confounding factors and mixed models
Q90089204Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe
Q47554600Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning
Q98286407Population-scale proteome variation in human induced pluripotent stem cells
Q92460773Population-specific long-range linkage disequilibrium in the human genome and its influence on identifying common disease variants
Q62583657Post-GWAS in prostate cancer: from genetic association to biological contribution
Q89670932Power calculation for the general two-sample Mendelian randomization analysis
Q90594699Precise and Cost-Effective Nanopore Sequencing for Post-GWAS Fine-Mapping and Causal Variant Identification
Q64272847Precision drug repurposing via convergent eQTL-based molecules and pathway targeting independent disease-associated polymorphisms
Q90505034Prediction of blood test values under different lifestyle scenarios using time-series electronic health record
Q98475181Prediction of drug response in multilayer networks based on fusion of multiomics data
Q54221187PregOMICS-Leveraging systems biology and bioinformatics for drug repurposing in maternal-child health.
Q55602739Prioritization and functional assessment of noncoding variants associated with complex diseases.
Q92025889Prioritization of Variants for Investigation of Genotype-Directed Nutrition in Human Superpopulations
Q47213433Prioritizing diversity in human genomics research.
Q91619593ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci
Q94452094Promoter-anchored chromatin interactions predicted from genetic analysis of epigenomic data
Q89741561Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB
Q102379252Qtlizer: comprehensive QTL annotation of GWAS results
Q95329200Quantifying genetic effects on disease mediated by assayed gene expression levels
Q91765624REforge Associates Transcription Factor Binding Site Divergence in Regulatory Elements with Phenotypic Differences between Species
Q40064842RNA expression in human retina
Q92220252RSAT variation-tools: An accessible and flexible framework to predict the impact of regulatory variants on transcription factor binding
Q39407924Re-evaluating Strategies to Define the Immunoregulatory Roles of miRNAs
Q55645726Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians.
Q56964370Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research
Q90438732Regulatory SNPs and their widespread effects on the transcriptome
Q52351391Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project.
Q57059979Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease
Q64078566Replicability analysis in genome-wide association studies via Cartesian hidden Markov models
Q58548959Replication of results from a cervical cancer genome-wide association study in Taiwanese women
Q92264916Resolving the Insertion Sites of Polymorphic Duplications Reveals a HERC2 Haplotype under Selection
Q91451376Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration
Q90184734Reverse gene-environment interaction approach to identify variants influencing body-mass index in humans
Q37663150Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study.
Q64883593Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2.
Q64056781Risk variants disrupting enhancers of T1 and T cells in type 1 diabetes
Q64063070Robust Reference Powered Association Test of Genome-Wide Association Studies
Q90731828Role of cigarette smoking in the development of ischemic stroke and its subtypes: a Mendelian randomization study
Q97588290SNP-HLA Reference Consortium (SHLARC): HLA and SNP data sharing for promoting MHC-centric analyses in genomics
Q90070150SNP2APA: a database for evaluating effects of genetic variants on alternative polyadenylation in human cancers
Q47884066SNPDelScore: combining multiple methods to score deleterious effects of noncoding mutations in the human genome
Q55518761SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine.
Q64113581SNPs2ChIP: Latent Factors of ChIP-seq to infer functions of non-coding SNPs
Q89731187Sarcopenia-related traits and coronary artery disease: a bi-directional Mendelian randomization study
Q56888310Scaling up data curation using deep learning: An application to literature triage in genomic variation resources
Q91011100Schizophrenia risk variants influence multiple classes of transcripts of sorting nexin 19 (SNX19)
Q97538985Scleral HIF-1α is a prominent regulatory candidate for genetic and environmental interactions in human myopia pathogenesis
Q64249995Self-Adjusting Ant Colony Optimization Based on Information Entropy for Detecting Epistatic Interactions
Q98208962Septic Shock: A Genomewide Association Study and Polygenic Risk Score Analysis
Q64071940Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density
Q96233486Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations
Q55092675Sequential regulatory activity prediction across chromosomes with convolutional neural networks.
Q91621021Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies
Q64076513Shared genetic underpinnings of childhood obesity and adult cardiometabolic diseases
Q92859706Signatures of Recent Positive Selection in Enhancers Across 41 Human Tissues
Q96306239Significance of Single-Nucleotide Variants in Long Intergenic Non-protein Coding RNAs
Q92739779Single cell and genetic analyses reveal conserved populations and signaling mechanisms of gastrointestinal stromal niches
Q91843234Single nucleotide polymorphisms associated with susceptibility for development of colorectal cancer: Case-control study in a Basque population
Q64965104Single-Cell Heterogeneity Analysis and CRISPR Screen Identify Key β-Cell-Specific Disease Genes.
Q103806121Single-cell lineage analysis reveals extensive multimodal transcriptional control during directed beta-cell differentiation
Q55425834Six novel susceptibility loci for coronary artery disease and cerebral infarction identified by longitudinal exome-wide association studies in a Japanese population.
Q93170123SliceIt: A genome-wide resource and visualization tool to design CRISPR/Cas9 screens for editing protein-RNA interaction sites in the human genome
Q91107396Spinning convincing stories for both true and false association signals
Q64945845Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases.
Q96576777Study of genetic correlation between children's sleep and obesity
Q52616273Systematic Evaluation of Molecular Networks for Discovery of Disease Genes.
Q64883875Systematic approach demonstrates enrichment of multiple interactions between non-HLA risk variants and HLA-DRB1 risk alleles in rheumatoid arthritis.
Q92993050Systematic evaluation of cancer-specific genetic risk score for 11 types of cancer in The Cancer Genome Atlas and Electronic Medical Records and Genomics cohorts
Q42255083Systematic integration of biomedical knowledge prioritizes drugs for repurposing
Q33709312Systematic mapping of functional enhancer-promoter connections with CRISPR interference
Q64899850Systems Analyses Reveal Physiological Roles and Genetic Regulators of Liver Lipid Species.
Q55380713Systems Pharmacology-Based Approach of Connecting Disease Genes in Genome-Wide Association Studies with Traditional Chinese Medicine.
Q64121802Systems genetics of nonsyndromic orofacial clefting provides insights into its complex aetiology
Q56889746T Cell/B Cell Collaboration and Autoimmunity: An Intimate Relationship
Q91688131TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes
Q92857974Target Genes of Autism Risk Loci in Brain Frontal Cortex
Q64118643Targeted, High-Resolution RNA Sequencing of Non-coding Genomic Regions Associated With Neuropsychiatric Functions
Q91451096Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy
Q47557794Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
Q46344215The AraGWAS Catalog: a curated and standardized Arabidopsis thaliana GWAS catalog
Q100751524The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations
Q94671337The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic
Q90050753The Cancer-Associated Genetic Variant Rs3903072 Modulates Immune Cells in the Tumor Microenvironment
Q91560536The Causal Relationship of Circulating Triglyceride and Glycated Hemoglobin: A Mendelian Randomization Study
Q90266382The Challenges of Chromosome Y Analysis and the Implications for Chronic Kidney Disease
Q91796599The Cholinergic System as a Treatment Target for Opioid Use Disorder
Q52559050The Emerging Immunogenetic Architecture of Schizophrenia.
Q99709837The Genetic Architecture of the Clustering of Cardiometabolic Risk Factors: A Study of 8- to 17-Year-Old Chinese Twins
Q61800976The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits
Q93047910The Length of the Expressed 3' UTR Is an Intermediate Molecular Phenotype Linking Genetic Variants to Complex Diseases
Q57166113The Limits and Potential Future Applications of Personalized Medicine to Prevent Complex Chronic Disease
Q62609523The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
Q47194761The Porphyromonas gingivalis/Host Interactome Shows Enrichment in GWASdb Genes Related to Alzheimer's Disease, Diabetes and Cardiovascular Diseases.
Q91624848The RNA N6-methyladenosine modification landscape of human fetal tissues
Q55381143The Role of Genetics in Advancing Precision Medicine for Alzheimer's Disease-A Narrative Review.
Q46383154The Three-Dimensional Organization of Mammalian Genomes
Q64238215The Transcription Factor ERG Regulates Super-Enhancers Associated With an Endothelial-Specific Gene Expression Program
Q64981048The Transcriptional Landscape of Microglial Genes in Aging and Neurodegenerative Disease.
Q47668992The association of RAR-related orphan receptor A (RORA) gene polymorphisms with the risk of asthma
Q64945657The association of nucleotide-binding oligomerization domain 2 gene polymorphisms with the risk of asthma in the Chinese Han population.
Q58786509The impact of genome-wide association studies on biomedical research publications
Q91063059The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes
Q91063049The impact of short tandem repeat variation on gene expression
Q90159879The influence of rare variants in circulating metabolic biomarkers
Q47099948The interaction of fat mass and obesity associated gene polymorphisms and dietary fiber intake in relation to obesity phenotypes
Q93235559The lncRNA RMEL3 protects immortalized cells from serum withdrawal-induced growth arrest and promotes melanoma cell proliferation and tumor growth
Q50199930The pharmacoepigenomics informatics pipeline defines a pathway of novel and known warfarin pharmacogenomics variants.
Q58774682The polymorphism rs35767 at IGF1 locus is associated with serum urate levels
Q62477829The role of sex in the genomics of human complex traits
Q91623818The rs1126616 Single Nucleotide Polymorphism of the Osteopontin Gene Is Independently Associated with Cardiovascular Events in a Chronic Kidney Disease Cohort
Q55015170The search for gene-gene interactions in genome-wide association studies: challenges in abundance of methods, practical considerations, and biological interpretation.
Q90261670The transferability of lipid loci across African, Asian and European cohorts
Q57169430To ERV Is Human: A Phenotype-Wide Scan Linking Polymorphic Human Endogenous Retrovirus-K Insertions to Complex Phenotypes
Q50052181Toward a Tiered Model to Share Clinical Trial Data and Samples in Precision Oncology.
Q90754651Transcribed B lymphocyte genes and multiple sclerosis risk genes are underrepresented in Epstein-Barr Virus hypomethylated regions
Q90449273Transcriptome association studies of neuropsychiatric traits in African Americans implicate PRMT7 in schizophrenia
Q90408737Translation of mouse model to human gives insights into periodontitis etiology
Q57035021Translational Research: Empowering the Role of Pathologists and Cytopathologists
Q59813468Type 1 Diabetes Mellitus-Associated Genetic Variants Contribute to Overlapping Immune Regulatory Networks
Q49200841Type 1 diabetes genome-wide association studies: not to be lost in translation.
Q52689109Unexplored therapeutic opportunities in the human genome.
Q89574634Unraveling the role of salt-sensitivity genes in obesity with integrated network biology and co-expression analysis
Q87857914Updates on Genome-Wide Association Findings in Eating Disorders and Future Application to Precision Medicine
Q55381228Using Gene Expression to Annotate Cardiovascular GWAS Loci.
Q56975629Using Multi-Scale Genetic, Neuroimaging and Clinical Data for Predicting Alzheimer's Disease and Reconstruction of Relevant Biological Mechanisms
Q63352565Using Openly Accessible Resources to Strengthen Causal Inference in Epigenetic Epidemiology of Neurodevelopment and Mental Health
Q50431170Using Zebrafish to Test the Genetic Basis of Human Craniofacial Diseases.
Q90329479Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain
Q52343466Using regulatory genomics data to interpret the function of disease variants and prioritise genes from expression studies.
Q49796871Validation of genotype imputation in Southeast Asian populations and the effect of single nucleotide polymorphism annotation on imputation outcome.
Q47097898VarCards: an integrated genetic and clinical database for coding variants in the human genome.
Q93064046Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration
Q46772059Variation and functional impact of Neanderthal ancestry in Western Asia
Q64077282Vitamin D levels and risk of delirium: A mendelian randomization study in the UK Biobank
Q90023785WITHDRAWN: Single nucleotide polymorphism, a putative driver for the role of long intergeneric non-coding RNA
Q64125311Where to search top-K biomedical ontologies?
Q45324472Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease.
Q93170219Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome
Q41716416Whole blood gene expression and white matter Hyperintensities.
Q90146646Whole genome sequencing of a MAGIC population identified genomic loci and candidate genes for major fiber quality traits in upland cotton (Gossypium hirsutum L.).
Q55212175Whole-genome association study of antibody response to Epstein-Barr virus in an African population: a pilot.
Q54963142Word-of-Mouth Innovation: Hypothesis Generation for Supplement Repurposing based on Consumer Reviews.
Q97644556Workflow for the Implementation of Precision Genomics in Healthcare
Q49458239araGWAB: Network-based boosting of genome-wide association studies in Arabidopsis thaliana.
Q94460451circRNAprofiler: an R-based computational framework for the downstream analysis of circular RNAs
Q47444556dbGAPs: A comprehensive database of genes and genetic markers associated with psoriasis and its subtypes
Q93003091dbPTM in 2019: exploring disease association and cross-talk of post-translational modifications
Q92606769ncRNA-eQTL: a database to systematically evaluate the effects of SNPs on non-coding RNA expression across cancer types
Q89980237ncRPheno: a comprehensive database platform for identification and validation of disease related noncoding RNAs
Q45944127orchid: a novel management, annotation, and machine learning framework for analyzing cancer mutations.
Q90681456pathfindR: An R Package for Comprehensive Identification of Enriched Pathways in Omics Data Through Active Subnetworks
Q47574201rSNPBase 3.0: an updated database of SNP-related regulatory elements, element-gene pairs and SNP-based gene regulatory networks
Q92586356rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression
Q89021983snpEnrichR: analyzing co-localization of SNPs and their proxies in genomic regions

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