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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Main Authors: 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
Format: Article
Language:English
Published: Wiley 2016-12-01
Series:Chronic Diseases and Translational Medicine
Online Access:http://www.sciencedirect.com/science/article/pii/S2095882X16300469
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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
collection DOAJ
description 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
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spelling doaj.art-61a7e4364c1e45bdbc6a638778249b8b2022-12-22T03:37:46ZengWileyChronic Diseases and Translational Medicine2095-882X2016-12-0124231234Data analysis in the post-genome-wide association study eraQiao-Ling Wang0Wen-Le Tan1Yan-Jie Zhao2Ming-Ming Shao3Jia-Hui Chu4Xu-Dong Huang5Jun Li6Ying-Ying Luo7Lin-Na Peng8Qiong-Hua Cui9Ting Feng10Jie Yang11Ya-Ling Han12Department of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaDepartment of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaCorresponding author.; Department of Etiology and Carcinogenesis, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, ChinaSince 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 variationhttp://www.sciencedirect.com/science/article/pii/S2095882X16300469
spellingShingle 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
Chronic Diseases and Translational Medicine
title 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_short Data analysis in the post-genome-wide association study era
title_sort data analysis in the post genome wide association study era
url http://www.sciencedirect.com/science/article/pii/S2095882X16300469
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