Abstract
Genome-wide association studies (GWAS) have been widely used to investigate the pathogenesis of human complex diseases, and have yielded important new insights into the genetic mechanisms. However, the newly identified susceptibility loci exert very small risk effects, and cannot fully explain the underlying genetic risk. Fortunately, the existing large-scale GWAS datasets provide strong support for the investigation of human complex disease mechanisms using pathway analysis methods. Here, we developed a web-based knowledge database named PAGWAS to provide a comprehensive catalog of published pathway analysis of GWAS. It provides a convenient way to understand the associations between pathways or genes in these pathways and the given disease or trait of interest. PAGWAS incorporates knowledge from 164 published pathway analysis of GWAS papers and manually curated 5769 pathways and 89 diseases. Also, PAGWAS provides two types of network visualization function to illustrate the relationships between different diseases or pathways. We hope PAGWAS will be a useful tool with great potential for researches on pathogenesis of human complex diseases. Database URL: PAGWAS can be accessed at http://www.bio-annotation.cn:18080/GWASDisease/.
| Original language | English |
|---|---|
| Title of host publication | Proceedings - 2019 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2019 |
| Editors | Illhoi Yoo, Jinbo Bi, Xiaohua Tony Hu |
| Publisher | Institute of Electrical and Electronics Engineers Inc. |
| Pages | 1814-1821 |
| Number of pages | 8 |
| ISBN (Electronic) | 9781728118673 |
| DOIs | |
| State | Published - Nov 2019 |
| Externally published | Yes |
| Event | 2019 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2019 - San Diego, United States Duration: 18 Nov 2019 → 21 Nov 2019 |
Publication series
| Name | Proceedings - 2019 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2019 |
|---|
Conference
| Conference | 2019 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2019 |
|---|---|
| Country/Territory | United States |
| City | San Diego |
| Period | 18/11/19 → 21/11/19 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- GWAS
- Pathway analysis
- complex diseases
- knowledge database
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