TWAS Atlas: a curated knowledgebase of transcriptome-wide association studies
Authors:
Open Access
- 16 October 2022
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 51 (D1) , D1179-D1187
Abstract
Transcriptome-wide association studies (TWASs), as a practical and prevalent approach for detecting the associations between genetically regulated genes and traits, are now leading to a better understanding of the complex mechanisms of genetic variants in regulating various diseases and traits. Despite the ever-increasing TWAS outputs, there is still a lack of databases curating massive public TWAS information and knowledge. To fill this gap, here we present TWAS Atlas (https://ngdc.cncb.ac.cn/twas/), an integrated knowledgebase of TWAS findings manually curated from extensive literature. In the current implementation, TWAS Atlas collects 401,266 high-quality human gene–trait associations from 200 publications, covering 22,247 genes and 257 traits across 135 tissue types. In particular, an interactive knowledge graph of the collected gene–trait associations is constructed together with single nucleotide polymorphism (SNP)–gene associations to build up comprehensive regulatory networks at multi-omics levels. In addition, TWAS Atlas, as a user-friendly web interface, efficiently enables users to browse, search and download all association information, relevant research metadata and annotation information of interest. Taken together, TWAS Atlas is of great value for promoting the utility and availability of TWAS results in explaining the complex genetic basis as well as providing new insights for human health and disease research.Keywords
Funding Information
- Chinese Academy of Sciences (XDB38030400)
- CAMS Innovation Fund for Medical Sciences (2021-I2M-1-056)
- National Natural Science Foundation of China (31970634, 32170669)
- National Key Research Program of China (2020YFA0907001, 2016YFC0901901, 2016YFB0201702)
- Specialized Research Assistant Program of the Chinese Academy of Sciences (202044)
- the Youth Innovation Promotion Association of Chinese Academy of Science (2022098)
- China Postdoctoral Science Foundation (2021M693109)
This publication has 61 references indexed in Scilit:
- NCBI’s Database of Genotypes and Phenotypes: dbGaPNucleic Acids Research, 2013
- The Cancer Genome Atlas Pan-Cancer analysis projectNature Genetics, 2013
- The Genotype-Tissue Expression (GTEx) projectNature Genetics, 2013
- Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31Nature Communications, 2013
- Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific mannerBMC Genomics, 2012
- Origins of regulated cell-to-cell variabilityNature Reviews Molecular Cell Biology, 2011
- Modeling sample variables with an Experimental Factor OntologyBioinformatics, 2010
- Modeling a description logic vocabulary for cancer researchJournal of Biomedical Informatics, 2005
- The Unified Medical Language System (UMLS): integrating biomedical terminologyNucleic Acids Research, 2004
- dbSNP: the NCBI database of genetic variationNucleic Acids Research, 2001