ArticleCell cycle (Georgetown, Tex.)2010
A systematic approach to understand the functional consequences of non-protein coding risk regions.
Article in Cell cycle (Georgetown, Tex.), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Networks of intergenic long-range enhancers and snpRNAs drive castration-resistant phenotype of prostate cancer and contribute to pathogenesis of multiple common human disorders.Cell cycle (Georgetown, Tex.) · 2011Pooled it
- Global mapping of cancers: The Cancer Genome Atlas and beyond.Molecular oncology · 2021Review
- Comprehensive functional annotation of susceptibility variants associated with asthma.Human genetics · 2020Article
- Effects on the transcriptome upon deletion of a distal element cannot be predicted by the size of the H3K27Ac peak in human cells.Nucleic acids research · 2016Article
- Integration of multiethnic fine-mapping and genomic annotation to prioritize candidate functional SNPs at prostate cancer susceptibility regions.Human molecular genetics · 2015Article
- FunciSNP: an R/bioconductor tool integrating functional non-coding data sets with genetic association studies to identify candidate regulatory SNPs.Nucleic acids research · 2012Article
- HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.Genome research · 2012Article
- Current status of genome-wide association studies in cancer.Human genetics · 2011Review
- Principles for the post-GWAS functional characterization of cancer risk loci.Nature genetics · 2011Article
Corrections and comments
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7 authors.
Funding
Abstract
A primary goal of genetic association studies is to elucidate genes and novel biological mechanisms involved in disease. Recently, genome-wide association studies have identified many common genetic variants that are significantly associated with complex diseases such as cancer. In contrast to Mendelian disorders, a sizable fraction of the variants lies outside known protein-coding regions; therefore, understanding their biological consequences presents a major challenge in human genetics. Here we describe an integrated framework to allow non-protein coding loci to be annotated with respect to regulatory functions. This will facilitate identification of target genes as well as prioritize variants for functional testing.
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