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Genome-wide association studies: inherent limitations and future challenges

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Abstract

Genome-wide association studies (GWAS) have achieved great success in identifying genetic variants related to complex human diseases such as cancer and have provided valuable insights into their genetic architecture. Recently, GWAS is quite the fashion in China. However, there are issues related to its nature. Enormous work needs to be done in the post-GWAS era. Deep sequencing followed by functional studies will be needed to elucidate the underpinning biological mechanisms and further translate GWAS findings into medical practice. Along with pharmacogenomics, the success of GWAS in identifying genetic risk factors and genetic differences in drug response has been gradually enabling personalized medicine. In this article, we used hepatocellular carcinoma (HCC) as an example to demonstrate some of the inherent limitations and summarized future challenges of GWAS.

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  1. Department of Epidemiology, Second Military Medical University, Shanghai, 200433, China

    Yan Du, Jiaxin Xie, Wenjun Chang, Yifang Han & Guangwen Cao

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  1. Yan Du
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Du, Y., Xie, J., Chang, W. et al. Genome-wide association studies: inherent limitations and future challenges. Front. Med. 6, 444–450 (2012). https://doi.org/10.1007/s11684-012-0225-3

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