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

Challenges and progress in interpretation of non-coding genetic variants associated with human disease.

Experimental biology and medicine (Maywood, N.J.) - 1 Jul 2017

Zhu Yizhou, Tazearslan Cagdas, Suh Yousin

Abstract excerpt

Genome-wide association studies have shown that the far majority of disease-associated variants reside in the non-coding regions of the genome, suggesting that gene regulatory changes contribute to disease risk. To identify truly causal non-coding variants and their affected target genes remains challenging but is a critical step to translate the genetic associations to molecular mechanisms and ultimately...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Epigenesis, Genetic
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome-Wide Association Study

Share to Regulatory Sequences, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 28581336
DOI: 10.1177/1535370217713750
PMCID: PMC5529005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Challenges and progress in interpretation of non-coding genetic variants associated with human disease.PMID 28581336Read ↗

Demystifying non-coding GWAS variants: an overview of computational tools and methods.Semantic proximity Read ↗

Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants.Semantic proximity Read ↗

Principles and methods of in-silico prioritization of non-coding regulatory variants.Semantic proximity Read ↗

Interpreting noncoding genetic variation in complex traits and human disease.Semantic proximity Read ↗

Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression.Semantic proximity Read ↗

A systematic approach to understand the functional consequences of non-protein coding risk regions.Semantic proximity Read ↗

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

NCAD v1.0: a database for non-coding variant annotation and interpretation.Semantic proximity Read ↗

The Role of Noncoding Variants in Heritable Disease.Semantic proximity Read ↗

Genomic approaches for understanding the genetics of complex disease.Semantic proximity Read ↗

Exploring noncoding variants in genetic diseases: from detection to functional insights.Semantic proximity Read ↗

Functional interpretation of non-coding sequence variation: concepts and challenges.Semantic proximity Read ↗

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