On the public citation graph

Functional enrichments of disease variants across thousands of independent loci in eight diseases

0 signed · 58 inferred · view as graph

Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.

Is this your work? Sign in with ORCID and put your name on the claims that are yours.

Claim with ORCID

Reference health. See whether every reference in this work resolves to a known work and none has been retracted — and get a dated CiteStamped badge you can embed.

See reference health

What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1007/978-3-7091-6721-2_3openalex-snapshot

Aberrant protein expression of transcription factors BACH1 and ERG, both encoded on chromosome 21, in brains of patients with Down syndrome and Alzheimer’s disease

inferredcites →https://doi.org/10.1007/s12026-015-8651-3openalex-snapshot

Epithelial-specific ETS-1 (ESE1/ELF3) regulates apoptosis of intestinal epithelial cells in ulcerative colitis via accelerating NF-κB activation

inferredcites →https://doi.org/10.1016/j.ajhg.2010.11.011openalex-snapshot

GCTA: A Tool for Genome-wide Complex Trait Analysis

inferredcites →https://doi.org/10.1016/j.ajhg.2014.03.004openalex-snapshot

Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits

inferredcites →https://doi.org/10.1016/j.ajhg.2014.10.004openalex-snapshot

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

inferredcites →https://doi.org/10.1016/j.cell.2013.09.053openalex-snapshot

Super-Enhancers in the Control of Cell Identity and Disease

inferredcites →https://doi.org/10.1016/j.cell.2013.10.058openalex-snapshot

Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms

inferredcites →https://doi.org/10.1016/j.mcn.2010.07.013openalex-snapshot

Uncx regulates proliferation of neural progenitor cells and neuronal survival in the olfactory epithelium

inferredcites →https://doi.org/10.1016/s1097-2765(03)00500-8openalex-snapshot

Immunity Regulatory DNAs Share Common Organizational Features in Drosophila

inferredcites →https://doi.org/10.1038/nature08494openalex-snapshot

Finding the missing heritability of complex diseases

inferredcites →https://doi.org/10.1038/nature09906openalex-snapshot

Mapping and analysis of chromatin state dynamics in nine human cell types

inferredcites →https://doi.org/10.1038/nature11247openalex-snapshot

An integrated encyclopedia of DNA elements in the human genome

inferredcites →https://doi.org/10.1038/nature14248openalex-snapshot

Integrative analysis of 111 reference human epigenomes

inferredcites →https://doi.org/10.1038/nature14252openalex-snapshot

Conserved epigenomic signals in mice and humans reveal immune basis of Alzheimer’s disease

inferredcites →https://doi.org/10.1038/nature16549openalex-snapshot

Schizophrenia risk from complex variation of complement component 4

inferredcites →https://doi.org/10.1038/nbt.1630openalex-snapshot

GREAT improves functional interpretation of cis-regulatory regions

inferredcites →https://doi.org/10.1038/ng.1108openalex-snapshot

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs

inferredcites →https://doi.org/10.1038/ng.2354openalex-snapshot

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

inferredcites →https://doi.org/10.1038/ng.2416openalex-snapshot

Breast cancer risk–associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression

inferredcites →https://doi.org/10.1038/ng.2504openalex-snapshot

Chromatin marks identify critical cell types for fine mapping complex trait variants

inferredcites →https://doi.org/10.1038/ng.2870openalex-snapshot

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants

inferredcites →https://doi.org/10.1038/ng.3097openalex-snapshot

Defining the role of common variation in the genomic and biological architecture of adult human height

inferredcites →https://doi.org/10.1038/ng.3404openalex-snapshot

Partitioning heritability by functional annotation using genome-wide association summary statistics

inferredcites →https://doi.org/10.1038/ng.3406openalex-snapshot

An atlas of genetic correlations across human diseases and traits

inferredcites →https://doi.org/10.1038/ng.608openalex-snapshot

Common SNPs explain a large proportion of the heritability for human height

inferredcites →https://doi.org/10.1038/ng2088openalex-snapshot

A new multipoint method for genome-wide association studies by imputation of genotypes

inferredcites →https://doi.org/10.1038/nmeth.1906openalex-snapshot

ChromHMM: automating chromatin-state discovery and characterization

inferredcites →https://doi.org/10.1038/nri3705openalex-snapshot

Innate immune activation in neurodegenerative disease

inferredcites →https://doi.org/10.1038/sj.mp.4001689openalex-snapshot

Identification of a potential Bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4

inferredcites →https://doi.org/10.1056/nejmp0806284openalex-snapshot

Common Genetic Variation and Human Traits

inferredcites →https://doi.org/10.1073/pnas.0506580102openalex-snapshot

Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles

inferredcites →https://doi.org/10.1073/pnas.0903103106openalex-snapshot

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

inferredcites →https://doi.org/10.1073/pnas.1419064111openalex-snapshot

Measuring missing heritability: Inferring the contribution of common variants

inferredcites →https://doi.org/10.1074/jbc.m208144200openalex-snapshot

Physical and Functional Interactions among AP-2 Transcription Factors, p300/CREB-binding Protein, and CITED2

inferredcites →https://doi.org/10.1084/jem.20041330openalex-snapshot

Ets-1, a functional cofactor of T-bet, is essential for Th1 inflammatory responses

inferredcites →https://doi.org/10.1093/bioinformatics/btq033openalex-snapshot

BEDTools: a flexible suite of utilities for comparing genomic features

inferredcites →https://doi.org/10.1093/bioinformatics/btu416openalex-snapshot

Fast and accurate imputation of summary statistics enhances evidence of functional enrichment

inferredcites →https://doi.org/10.1093/nar/gkq912openalex-snapshot

T1DBase: update 2011, organization and presentation of large-scale data sets for type 1 diabetes research

inferredcites →https://doi.org/10.1093/nar/gkt1229openalex-snapshot

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

inferredcites →https://doi.org/10.1093/nar/gkt1249openalex-snapshot

Systematic discovery and characterization of regulatory motifs in ENCODE TF binding experiments

inferredcites →https://doi.org/10.1111/j.1582-4934.2009.00383.xopenalex-snapshot

RXRA gene variations influence Alzheimer's disease risk and cholesterol metabolism

inferredcites →https://doi.org/10.1126/science.1088477openalex-snapshot

Mutation of MEF2A in an Inherited Disorder with Features of Coronary Artery Disease

inferredcites →https://doi.org/10.1126/science.1222794openalex-snapshot

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

inferredcites →https://doi.org/10.1172/jci30076openalex-snapshot

The role of gut hormones in glucose homeostasis

inferredcites →https://doi.org/10.1177/0004867413499077openalex-snapshot

Immune dysregulation and autoimmunity in bipolar disorder: Synthesis of the evidence and its clinical application

inferredcites →https://doi.org/10.1198/016214501753382129openalex-snapshot

Empirical Bayes Analysis of a Microarray Experiment

inferredcites →https://doi.org/10.1198/016214507000001373openalex-snapshot

Hierarchical False Discovery Rate–Controlling Methodology

inferredcites →https://doi.org/10.1214/12-ba703openalex-snapshot

Scalable Variational Inference for Bayesian Variable Selection in Regression, and Its Accuracy in Genetic Association Studies

inferredcites →https://doi.org/10.1242/dev.01370openalex-snapshot

Essential role of Gata transcription factors in sympathetic neuron development

inferredcites →https://doi.org/10.1371/journal.pgen.1000529openalex-snapshot

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

inferredcites →https://doi.org/10.1371/journal.pgen.1003770openalex-snapshot

Integrated Enrichment Analysis of Variants and Pathways in Genome-Wide Association Studies Indicates Central Role for IL-2 Signaling Genes in Type 1 Diabetes, and Cytokine Signaling Genes in Crohn's Disease

inferredcites →https://doi.org/10.1371/journal.pgen.1004969openalex-snapshot

Simultaneous Discovery, Estimation and Prediction Analysis of Complex Traits Using a Bayesian Mixture Model

inferredcites →https://doi.org/10.1523/jneurosci.0519-10.2010openalex-snapshot

Tyk2/STAT3 Signaling Mediates β-Amyloid-Induced Neuronal Cell Death: Implications in Alzheimer's Disease

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1007/s40142-016-0102-5openalex-snapshot

Integrative Networks Illuminate Biological Factors Underlying Gene–Disease Associations

inferred← citeshttps://doi.org/10.1038/ng.3841openalex-snapshot

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

inferred← citeshttps://doi.org/10.1101/076794openalex-snapshot

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

inferred← citeshttps://doi.org/10.1371/journal.pgen.1006933openalex-snapshot

Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer’s disease

inferred← citeshttps://doi.org/10.1530/ey.15.7.5openalex-snapshot

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Editorial review for independent work. ICSAC — the Institute for Complexity Science and Advanced Computing — runs a structured editorial panel for researchers publishing outside journals, and publishes on CiteStamp rails. Submission is free and goes through ORCID: icsacinstitute.org/submit.