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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
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.
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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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