結合GWAS和RNAseq來實現個人化醫療:WHOLE approach(一)

近年來打者個人化醫療旗幟的各式各樣研究大量湧出,每個研究者切入的角度都很不同,這邊分享由Greg Gibson教授所努力的其中一種方式:WHOLE(Wellness and Health Omics linked to the Environment) approach。

Greg Gibson教授是Georgia Institute of Technology中Predictive Health Institute and School of Biology的負責人,本身一開始從果蠅的GWAS研究起家,近年來開始轉做人類醫學的研究,他有寫一本關於基因體學的教科書A Primer of Genome Science,輕鬆易入手,娓娓地談關於基因體研究歷年來的發展,從microarray到次世代定去,還談了很多不同相關領域的應用。
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Greg Gibson所提出的The WHOLE approach,其實就是將臨床上的危險因子評估與一套Genomic Risk Score相結合,這Genomic Risk Score則是整合GWAS研究找到的各式各樣SNP來進行計算,希望能提供病人更多的資訊。

 

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分別整理一下這位教授的研究,將其分類來做深入探討,尤其是他如何計算Genomic Risk Score的,這套方式是一種很貼近臨床的approach!
Transcriptomics for Translational Medicine

        Gibson, G., Marigorta, U. M., Ojagbeghru, E. R., & Park, S. (2015). PART of the WHOLE: A case study in wellness-oriented personalized medicine. Yale Journal of Biology and Medicine, 88(4), 397–406.


        Gibson, B. G. (2015). GTEx detects genetic effects. Science, 348(6235), 640–641. http://doi.org/10.1126/science.aab3002

        Gibson, G. (2014). Directions for the drivers. Nature, 512(7512), 31–3. http://doi.org/10.1038/512032a

         J., K., N., G., D.J., E., N.C., C., J.D., S., A.A., Q., … Gibson, G. (2014). Gene expression profiles associated with acute myocardial infarction and risk of cardiovascular death. Genome Medicine, 6(5), 1–13. http://doi.org/10.1186/gm560 (v)

        Hemani, G., Shakhbazov, K., Westra, H. H.-J., Esko, T., Henders, A. K., McRae, A. F., … Powell, J. E. (2014). Detection and replication of epistasis influencing transcription in humans. Nature, 508(7495), 249–253. http://doi.org/10.1038/nature13005

        Zhao, J., Akinsanmi, I., Arafat, D., Cradick, T. J., Lee, C. M., Banskota, S., … Gibson, G. (2016). A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood. American Journal of Human Genetics, 98(2), 299–309. http://doi.org/10.1016/j.ajhg.2015.12.023 (v)

        PRASHER, B. H. A. V. A. N. A., GIBSON, G. R. E. G., & MUKERJI, M. I. T. A. L. I. (2016). Genomic insights into ayurvedic and western approaches to personalized medicine. Journal of Genetics, 95(1), 209–228. http://doi.org/10.1007/s12041-015-0607-9

         Gibson, G., Powell, J. E., & Marigorta, U. M. (2015). Expression quantitative trait locus analysis for translational medicine. Genome Medicine, 7(1), 60. http://doi.org/10.1186/s13073-015-0186-7(v)

Omic Personality and the Genomics of Wellness
Tabassum, R., Sivadas, A., Agrawal, V., Tian, H., Arafat, D., & Gibson, G. (2015). Omic personality: implications of stable transcript and methylation profiles for personalized medicine. Genome Medicine, 7(1), 88. http://doi.org/10.1186/s13073-015-0209-4(v)
Wellness and Health Omics Linked to the Environment: The WHOLE Approach to Personalized Medicine(v)
Visscher, P. M., & Gibson, G. (2013). What if we had whole-genome sequence data for millions of individuals? Genome Medicine, 5(9), 80. http://doi.org/10.1186/gm484
Gibson, G., & Visscher, P. M. (2013). From personalized to public health genomics. Genome Medicine, 5, 60. http://doi.org/10.1186/gm464
Patel, C. J., Sivadas, A., Tabassum, R., Preeprem, T., Zhao, J., Arafat, D., … Gibson, G. (2013). Whole genome sequencing in support of wellness and health maintenance. Genome Medicine, 5(June), 58. http://doi.org/10.1186/gm462
(v)

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