Data analysis in the post-genome-wide association study era
Since the first report of a genome-wide association study (GWAS) on human age-related macular degeneration, GWAS has successfully been used to discover genetic variants for a variety of complex human diseases and/or traits, and thousands of associated loci have been identified. However, the underlyi...
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KeAi Communications Co., Ltd.
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oai:doaj.org-article:61a7e4364c1e45bdbc6a638778249b8b2021-12-02T14:20:34ZData analysis in the post-genome-wide association study era2095-882X10.1016/j.cdtm.2016.11.009https://doaj.org/article/61a7e4364c1e45bdbc6a638778249b8b2016-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2095882X16300469https://doaj.org/toc/2095-882XSince the first report of a genome-wide association study (GWAS) on human age-related macular degeneration, GWAS has successfully been used to discover genetic variants for a variety of complex human diseases and/or traits, and thousands of associated loci have been identified. However, the underlying mechanisms for these loci remain largely unknown. To make these GWAS findings more useful, it is necessary to perform in-depth data mining. The data analysis in the post-GWAS era will include the following aspects: fine-mapping of susceptibility regions to identify susceptibility genes for elucidating the biological mechanism of action; joint analysis of susceptibility genes in different diseases; integration of GWAS, transcriptome, and epigenetic data to analyze expression and methylation quantitative trait loci at the whole-genome level, and find single-nucleotide polymorphisms that influence gene expression and DNA methylation; genome-wide association analysis of disease-related DNA copy number variations. Applying these strategies and methods will serve to strengthen GWAS data to enhance the utility and significance of GWAS in improving understanding of the genetics of complex diseases or traits and translate these findings for clinical applications. Keywords: Genome-wide association study, Data mining, Integrative data analysis, Polymorphism, Copy number variationQiao-Ling WangWen-Le TanYan-Jie ZhaoMing-Ming ShaoJia-Hui ChuXu-Dong HuangJun LiYing-Ying LuoLin-Na PengQiong-Hua CuiTing FengJie YangYa-Ling HanKeAi Communications Co., Ltd.articleMedicine (General)R5-920ENChronic Diseases and Translational Medicine, Vol 2, Iss 4, Pp 231-234 (2016) |
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Medicine (General) R5-920 |
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Medicine (General) R5-920 Qiao-Ling Wang Wen-Le Tan Yan-Jie Zhao Ming-Ming Shao Jia-Hui Chu Xu-Dong Huang Jun Li Ying-Ying Luo Lin-Na Peng Qiong-Hua Cui Ting Feng Jie Yang Ya-Ling Han Data analysis in the post-genome-wide association study era |
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Since the first report of a genome-wide association study (GWAS) on human age-related macular degeneration, GWAS has successfully been used to discover genetic variants for a variety of complex human diseases and/or traits, and thousands of associated loci have been identified. However, the underlying mechanisms for these loci remain largely unknown. To make these GWAS findings more useful, it is necessary to perform in-depth data mining. The data analysis in the post-GWAS era will include the following aspects: fine-mapping of susceptibility regions to identify susceptibility genes for elucidating the biological mechanism of action; joint analysis of susceptibility genes in different diseases; integration of GWAS, transcriptome, and epigenetic data to analyze expression and methylation quantitative trait loci at the whole-genome level, and find single-nucleotide polymorphisms that influence gene expression and DNA methylation; genome-wide association analysis of disease-related DNA copy number variations. Applying these strategies and methods will serve to strengthen GWAS data to enhance the utility and significance of GWAS in improving understanding of the genetics of complex diseases or traits and translate these findings for clinical applications. Keywords: Genome-wide association study, Data mining, Integrative data analysis, Polymorphism, Copy number variation |
format |
article |
author |
Qiao-Ling Wang Wen-Le Tan Yan-Jie Zhao Ming-Ming Shao Jia-Hui Chu Xu-Dong Huang Jun Li Ying-Ying Luo Lin-Na Peng Qiong-Hua Cui Ting Feng Jie Yang Ya-Ling Han |
author_facet |
Qiao-Ling Wang Wen-Le Tan Yan-Jie Zhao Ming-Ming Shao Jia-Hui Chu Xu-Dong Huang Jun Li Ying-Ying Luo Lin-Na Peng Qiong-Hua Cui Ting Feng Jie Yang Ya-Ling Han |
author_sort |
Qiao-Ling Wang |
title |
Data analysis in the post-genome-wide association study era |
title_short |
Data analysis in the post-genome-wide association study era |
title_full |
Data analysis in the post-genome-wide association study era |
title_fullStr |
Data analysis in the post-genome-wide association study era |
title_full_unstemmed |
Data analysis in the post-genome-wide association study era |
title_sort |
data analysis in the post-genome-wide association study era |
publisher |
KeAi Communications Co., Ltd. |
publishDate |
2016 |
url |
https://doaj.org/article/61a7e4364c1e45bdbc6a638778249b8b |
work_keys_str_mv |
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