Article

Ovarian Cancer Risk Variants are Enriched in Histotype-Specific Enhancers that Disrupt Transcription Factor Binding Sites

2020-02-25

Abstract excerpt

Quantifying the functional effects of complex disease risk variants can provide insights into mechanisms underlying disease biology. Genome wide association studies (GWAS) have identified 39 regions associated with risk of epithelial ovarian cancer (EOC). The vast majority of these variants lie in the non-coding genome, suggesting they mediate their function through the regulation of gene expression by their inter...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b8502827-fd91-5b80-828e-cc5a6c972f93
DOI: 10.1101/2020.02.21.960468

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Ovarian Cancer Risk Variants are Enriched in Histotype-Specific Enhancers that Disrupt Transcription Factor Binding SitesDOI 10.1101/2020.02.21.960468Read

Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and Disrupt Transcription Factor Binding Sites.Semantic proximity Read

Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.Semantic proximity Read

Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci.Semantic proximity Read

chromMAGMA: regulatory element-centric interrogation of risk variantsSemantic proximity Read

Non-coding Somatic Mutations Converge on the PAX8 Pathway in Epithelial Ovarian CancerSemantic proximity Read

Allelic imbalance of chromatin accessibility in cancer identifies candidate causal risk variants and their mechanisms.Semantic proximity Read

Minimum entropy framework identifies a novel class of genomic functional elements and reveals regulatory mechanisms at human disease lociSemantic proximity Read

Non-coding somatic mutations converge on the PAX8 pathway in ovarian cancer.Semantic proximity Read

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

Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer.Semantic proximity Read

Constrained Open Chromatin Regions Reveal Functional Elements Shaping Human TraitsSemantic proximity Read

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.Semantic proximity Read