Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants.

Human genetics - 1 Jul 2017

Markunas Christina A, Johnson Eric O, Hancock Dana B

Abstract excerpt

Genome-wide association study (GWAS)-identified variants are enriched for functional elements. However, we have limited knowledge of how functional enrichment may differ by disease/trait and tissue type. We tested a broad set of eight functional elements for enrichment among GWAS-identified SNPs (p < 5×10-8) from the NHGRI-EBI Catalog across seven disease/trait categories: cancer, cardiovascular disease,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anthropometry
Share to Autoimmune Diseases
Share to Cardiovascular Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus

Share to Linkage Disequilibrium

Share to Mental Disorders

Share to Mutation, Missense

Share to Nervous System Diseases

Source

Identifiers

PMID: 28567521
DOI: 10.1007/s00439-017-1815-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants.PMID 28567521Read ↗

Joint analysis of functional genomic data and genome-wide association studies of 18 human traits.Semantic proximity Read ↗

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.Semantic proximity Read ↗

Variant Set Enrichment: An R package to Identify Dis-ease-Associated Functional Genomic RegionsSemantic proximity Read ↗

Integrative analysis of transcription factor occupancy at enhancers and disease risk loci in noncoding genomic regionsSemantic proximity Read ↗

Identification of the molecular components of enhancer-mediated gene expression variation in multiple tissues regulating blood pressureSemantic proximity Read ↗

Integrative tissue-specific functional annotations in the human genome provide novel insights on many complex traits and improve signal prioritization in genome wide association studiesSemantic proximity Read ↗

The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.Semantic proximity Read ↗

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

Integrative Tissue-Specific Functional Annotations in the Human Genome Provide Novel Insights on Many Complex Traits and Improve Signal Prioritization in Genome Wide Association Studies.Semantic proximity Read ↗

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.Semantic proximity Read ↗

Joint analysis of functional genomic data and genome-wide association studies of 18 human traitsSemantic proximity Read ↗

Genetic effects of sequence-conserved enhancer-like elements on human complex traits.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.