Title |
cepip: context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes
|
---|---|
Published in |
Genome Biology, March 2017
|
DOI | 10.1186/s13059-017-1177-3 |
Pubmed ID | |
Authors |
Mulin Jun Li, Miaoxin Li, Zipeng Liu, Bin Yan, Zhicheng Pan, Dandan Huang, Qian Liang, Dingge Ying, Feng Xu, Hongcheng Yao, Panwen Wang, Jean-Pierre A. Kocher, Zhengyuan Xia, Pak Chung Sham, Jun S. Liu, Junwen Wang |
Abstract |
It remains challenging to predict regulatory variants in particular tissues or cell types due to highly context-specific gene regulation. By connecting large-scale epigenomic profiles to expression quantitative trait loci (eQTLs) in a wide range of human tissues/cell types, we identify critical chromatin features that predict variant regulatory potential. We present cepip, a joint likelihood framework, for estimating a variant's regulatory probability in a context-dependent manner. Our method exhibits significant GWAS signal enrichment and is superior to existing cell type-specific methods. Furthermore, using phenotypically relevant epigenomes to weight the GWAS single-nucleotide polymorphisms, we improve the statistical power of the gene-based association test. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 7 | 39% |
France | 2 | 11% |
Colombia | 1 | 6% |
United Kingdom | 1 | 6% |
Unknown | 7 | 39% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 12 | 67% |
Members of the public | 4 | 22% |
Science communicators (journalists, bloggers, editors) | 2 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Finland | 1 | 2% |
United States | 1 | 2% |
Luxembourg | 1 | 2% |
Unknown | 62 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 19 | 29% |
Student > Ph. D. Student | 14 | 22% |
Student > Bachelor | 6 | 9% |
Student > Master | 3 | 5% |
Student > Doctoral Student | 2 | 3% |
Other | 8 | 12% |
Unknown | 13 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 18 | 28% |
Agricultural and Biological Sciences | 16 | 25% |
Computer Science | 5 | 8% |
Medicine and Dentistry | 3 | 5% |
Chemical Engineering | 1 | 2% |
Other | 4 | 6% |
Unknown | 18 | 28% |