CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies. Issue Volume 48:Issue D1(2020) (6th November 2019)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Nucleic acids research. Volume 48:Issue D1(2020)
• Page Start: D807
• Page End: D816
• Publication Date: 2019-11-06
• Subjects: Nucleic acids -- Periodicals; Molecular biology -- Periodicals; 572.805
• DOI: 10.1093/nar/gkz1026
• Languages: English
• ISSNs: 0305-1048

Abstract

Abstract: 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 .