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

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.

Nature genetics - 1 Sept 2018

Castel Stephane E, Cervera Alejandra, Mohammadi Pejman, Aguet François, Reverter Ferran, Wolman Aaron, Guigo Roderic, Iossifov Ivan, Vasileva Ana, Lappalainen Tuuli

Abstract excerpt

Coding variants represent many of the strongest associations between genotype and phenotype; however, they exhibit inter-individual differences in effect, termed 'variable penetrance'. Here, we study how cis-regulatory variation modifies the penetrance of coding variants. Using functional genomic and genetic data from the Genotype-Tissue Expression Project (GTEx), we observed that in the general population,...

Read the complete abstract on PubMed

Topics

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

Share to CRISPR-Cas Systems
Share to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genome, Human

Share to Haplotypes

Share to Polymorphism, Single Nucleotide

Share to Quantitative Trait Loci

Share to Transcriptome

Source

Open in PubMed Open full text

Identifiers

PMID: 30127527
DOI: 10.1038/s41588-018-0192-y
PMCID: PMC6119105

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

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.PMID 30127527Read ↗

Modified penetrance of coding variants by <i>cis</i> -regulatory variation shapes human traitsSemantic proximity Read ↗

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variantsSemantic proximity Read ↗

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.Semantic proximity Read ↗

The GTEx Consortium atlas of genetic regulatory effects across human tissuesSemantic proximity Read ↗

Mapping functional non-coding variation in individual human genomes through haplotyping, multiomics, and deep learning.Semantic proximity Read ↗

The impact of structural variation on human gene expressionSemantic proximity Read ↗

Rare and common regulatory variation in population-scale sequenced human genomes.Semantic proximity Read ↗

Identifying Genetic Regulatory Variants that Affect Transcription Factor ActivitySemantic proximity Read ↗

Decoding common and rare noncoding variant effects across cellular and developmental contexts.Semantic proximity Read ↗

Quantifying deleterious effects of regulatory variants.Semantic proximity Read ↗

Epistatic selection between coding and regulatory variation in human evolution and disease.Semantic proximity Read ↗

Cis-regulatory mutations in human disease.Semantic proximity Read ↗

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