HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
Name
Ward-2011-HaploReg.pdf
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5.77 MB
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Adobe PDF
Checksum (MD5)
9df434c3da77bda16c230a0c4a8aead6
Author(s)
Ward, Lucas D.
Manolis, Kellis
Date Issued
November 2011
Journal
Nucleic Acids Research
Publisher
Oxford University Press
Citation
Ward, L. D., and M. Kellis. “HaploReg: a Resource for Exploring Chromatin States, Conservation, and Regulatory Motif Alterations Within Sets of Genetically Linked Variants.” Nucleic Acids Research 40.D1 (2011): D930–D934. Web.
Version
Final published version
Abstract
The resolution of genome-wide association studies (GWAS) is limited by the linkage disequilibrium (LD) structure of the population being studied. Selecting the most likely causal variants within an LD block is relatively straightforward within coding sequence, but is more difficult when all variants are intergenic. Predicting functional non-coding sequence has been recently facilitated by the availability of conservation and epigenomic information. We present HaploReg, a tool for exploring annotations of the non-coding genome among the results of published GWAS or novel sets of variants. Using LD information from the 1000 Genomes Project, linked SNPs and small indels can be visualized along with their predicted chromatin state in nine cell types, conservation across mammals and their effect on regulatory motifs. Sets of SNPs, such as those resulting from GWAS, are analyzed for an enrichment of cell type-specific enhancers. HaploReg will be useful to researchers developing mechanistic hypotheses of the impact of non-coding variants on clinical phenotypes and normal variation. The HaploReg database is available at http://compbio.mit.edu/HaploReg.
MIT Department
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
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Creative Commons Attribution Non-Commercial
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DOI of Published Version
https://doi.org/10.1093/nar/gkr917
