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CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies
Genome-wide association studies (GWASs) have revolutionized the field of complex trait genetics over the past decade, yet for most of the significant genotype-phenotype associations the true causal variants remain unknown. Identifying and interpreting how causal genetic variants confer disease susce...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145620/ https://www.ncbi.nlm.nih.gov/pubmed/31691819 http://dx.doi.org/10.1093/nar/gkz1026 |
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author | Wang, Jianhua Huang, Dandan Zhou, Yao Yao, Hongcheng Liu, Huanhuan Zhai, Sinan Wu, Chengwei Zheng, Zhanye Zhao, Ke Wang, Zhao Yi, Xianfu Zhang, Shijie Liu, Xiaorong Liu, Zipeng Chen, Kexin Yu, Ying Sham, Pak Chung Li, Mulin Jun |
author_facet | Wang, Jianhua Huang, Dandan Zhou, Yao Yao, Hongcheng Liu, Huanhuan Zhai, Sinan Wu, Chengwei Zheng, Zhanye Zhao, Ke Wang, Zhao Yi, Xianfu Zhang, Shijie Liu, Xiaorong Liu, Zipeng Chen, Kexin Yu, Ying Sham, Pak Chung Li, Mulin Jun |
author_sort | Wang, Jianhua |
collection | PubMed |
description | Genome-wide association studies (GWASs) have revolutionized the field of complex trait genetics over the past decade, yet for most of the significant genotype-phenotype associations the true causal variants remain unknown. Identifying and interpreting how causal genetic variants confer disease susceptibility is still a big challenge. Herein we introduce a new database, CAUSALdb, to integrate the most comprehensive GWAS summary statistics to date and identify credible sets of potential causal variants using uniformly processed fine-mapping. The database has six major features: it (i) curates 3052 high-quality, fine-mappable GWAS summary statistics across five human super-populations and 2629 unique traits; (ii) estimates causal probabilities of all genetic variants in GWAS significant loci using three state-of-the-art fine-mapping tools; (iii) maps the reported traits to a powerful ontology MeSH, making it simple for users to browse studies on the trait tree; (iv) incorporates highly interactive Manhattan and LocusZoom-like plots to allow visualization of credible sets in a single web page more efficiently; (v) enables online comparison of causal relations on variant-, gene- and trait-levels among studies with different sample sizes or populations and (vi) offers comprehensive variant annotations by integrating massive base-wise and allele-specific functional annotations. CAUSALdb is freely available at http://mulinlab.org/causaldb. |
format | Online Article Text |
id | pubmed-7145620 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-71456202020-04-13 CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies Wang, Jianhua Huang, Dandan Zhou, Yao Yao, Hongcheng Liu, Huanhuan Zhai, Sinan Wu, Chengwei Zheng, Zhanye Zhao, Ke Wang, Zhao Yi, Xianfu Zhang, Shijie Liu, Xiaorong Liu, Zipeng Chen, Kexin Yu, Ying Sham, Pak Chung Li, Mulin Jun Nucleic Acids Res Database Issue Genome-wide association studies (GWASs) have revolutionized the field of complex trait genetics over the past decade, yet for most of the significant genotype-phenotype associations the true causal variants remain unknown. Identifying and interpreting how causal genetic variants confer disease susceptibility is still a big challenge. Herein we introduce a new database, CAUSALdb, to integrate the most comprehensive GWAS summary statistics to date and identify credible sets of potential causal variants using uniformly processed fine-mapping. The database has six major features: it (i) curates 3052 high-quality, fine-mappable GWAS summary statistics across five human super-populations and 2629 unique traits; (ii) estimates causal probabilities of all genetic variants in GWAS significant loci using three state-of-the-art fine-mapping tools; (iii) maps the reported traits to a powerful ontology MeSH, making it simple for users to browse studies on the trait tree; (iv) incorporates highly interactive Manhattan and LocusZoom-like plots to allow visualization of credible sets in a single web page more efficiently; (v) enables online comparison of causal relations on variant-, gene- and trait-levels among studies with different sample sizes or populations and (vi) offers comprehensive variant annotations by integrating massive base-wise and allele-specific functional annotations. CAUSALdb is freely available at http://mulinlab.org/causaldb. Oxford University Press 2020-01-08 2019-11-06 /pmc/articles/PMC7145620/ /pubmed/31691819 http://dx.doi.org/10.1093/nar/gkz1026 Text en © The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Database Issue Wang, Jianhua Huang, Dandan Zhou, Yao Yao, Hongcheng Liu, Huanhuan Zhai, Sinan Wu, Chengwei Zheng, Zhanye Zhao, Ke Wang, Zhao Yi, Xianfu Zhang, Shijie Liu, Xiaorong Liu, Zipeng Chen, Kexin Yu, Ying Sham, Pak Chung Li, Mulin Jun CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies |
title | CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies |
title_full | CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies |
title_fullStr | CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies |
title_full_unstemmed | CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies |
title_short | CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies |
title_sort | causaldb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies |
topic | Database Issue |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145620/ https://www.ncbi.nlm.nih.gov/pubmed/31691819 http://dx.doi.org/10.1093/nar/gkz1026 |
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