Biological interpretation of genome-wide association studies using predicted gene functions

Pers, Tune H., Karjalainen, Juha M., Chan, Yingleong, Westra, Harm-Jan, Wood, Andrew R., Yang, Jian, Lui, Julian C., Vedantam, Sailaja +10 more·2015·Nature Communications

DOI 10.1038/ncomms6890

Cited by (824)

Items 301–400 of 824

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Yu‐Fang Pei, Wen‐Zhu Hu, Min-Wei Yan, Chengwei Li, Lu Liu, Xiaolin Yang, Rong Hai, Xiuyan Wang, Hui Shen, Qing Tian et al. · 2018 · Bone
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Performance of epistasis detection methods in semi-simulated GWAS
Clément Chatelain, Guillermo Durand, Vincent Thuillier, Franck Augé · 2018 · BMC Bioinformatics
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Shuo Li, Galit Weinstein, Habil Zare, Alexander Teumer, Uwe Völker, Nele Friedrich, Maria J. Knol, Claudia Liliana Satizábal, Vladislav Petyuk, Hieab H.H. Adams et al. · 2020 · Brain Communications
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Jonathan Sulc, Anthony Sonrel, Ninon Mounier, Chiara Auwerx, Eirini Marouli, Liza Darrous, Bogdan Draganski, Tuomas O. Kilpeläinen, Peter K. Joshi, Ruth J. F. Loos et al. · 2021 · Communications Biology
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Bruna Gomes, Aditya Singh, Jack William O’Sullivan, Theresia Maria Schnurr, Pagé C. Goddard, Shaun Seh Ern Loong, David Amar, John Weston Hughes, Mykhailo Kostur, François Haddad et al. · 2023 · Nature Genetics
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Renato A Polimanti, Chia‐Yen Chen, Robert J. Ursano, Steven G. Heeringa, Sonia Jain, Ronald C. Kessler, Matthew K. Nock, Jordan W. Smoller, Xiaoying Sun, Joel E. Gelernter et al. · 2016 · Journal of Neurotrauma
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M. Yldau van der Ende, M. Abdullah Said, Dirk Jan van Veldhuisen, Niek Verweij, Pim van der Harst · 2018 · Cardiovascular Research
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Hongyan Ren, Chiara Fabbri, Rudolf Uher, Marcella Rietschel, Ole N Mors, Neven Henigsberg, Joanna Hauser, Astrid W. Zobel, Wolfgang Maier, Mojca Zvezdana Dernovšek et al. · 2018 · Translational Psychiatry
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Cassandra Nichole Spracklen, Tugce Karaderi, Hanieh Yaghootkar, Claudia Schurmann, Rebecca S. Fine, Zoltán Kutalik, Michael H Preuss, Yingchang Lu, Laura B. L. Wittemans, Linda S. Adair et al. · 2019 · The American Journal of Human Genetics
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