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Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Chauhan, Ganesh, Traylor, Matthew, Sargurupremraj, Muralidharan, Okada, Yukinori, Mishra, Aniket, Giese, Anne-Katrin, van der Laan, Sander W., Gretarsdottir, Solveig, Anderson, Christopher D., Almgren, Peter, Amouyel, Philippe, Bartz, Traci M., Benavente, Oscar R., Boncoraglio, Giorgio B., Butterworth, Adam S., Carrera, Caty, Chasman, Daniel I., Cotlarciuc, Ioana, Cruchaga, Carlos, de Bakker, Paul I. W., Duan, Qing, Gottesman, Rebecca F., Harris, Tamara B., Hassan, Ahamad, Havulinna, Aki S., Heckbert, Susan R., Hyacinth, Hyacinth I., Ikram, M. Arfan, Ingelsson, Erik, Jian, Xueqiu, Jukema, J. Wouter, Kanai, Masahiro, Keene, Keith L., Kissela, Brett M., Kleindorfer, Dawn O., Kooperberg, Charles, Lange, Leslie A., Langenberg, Claudia, Launer, Lenore J., Lemmens, Robin, Lewis, Cathryn M., Lin, Wei-Yu, Lorentzen, Erik, Magnusson, Patrik K., Meschia, James F., Mitchell, Braxton D., Mosley, Thomas H., Nalls, Michael A., O’Donnell, Martin J., Pulit, Sara L., Reiner, Alexander P., Ridker, Paul M., Rothwell, Peter M., Rotter, Jerome I., Sale, Michele M., Salomaa, Veikko, Sapkota, Bishwa R., Schmidt, Reinhold, Schmidt, Carsten O., Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie L. M., Tanislav, Christian, Thijs, Vincent N. S., Thorsteinsdottir, Unnur, Tiedt, Steffen, Trompet, Stella, Wareham, Nicholas J., Wassertheil-Smoller, Sylvia, Wilson, James G., Pastinen, Tomi, Ruusalepp, Arno, Koplev, Simon, Björkegren, Johan L. M., Codoni, Veronica, Civelek, Mete, Christophersen, Ingrid E., Roselli, Carolina, Ellinor, Patrick T., Kato, Norihiro, van der Harst, Pim, Elliott, Paul, Takeuchi, Fumihiko, Johnson, Andrew D., Sanghera, Dharambir K., Melander, Olle, Strbian, Daniel, Fernandez-Cadenas, Israel, Rolfs, Arndt, Hata, Jun, Woo, Daniel, Pare, Guillaume, Hopewell, Jemma C., Saleheen, Danish, Stefansson, Kari, Worrall, Bradford B., Seshadri, Sudha, Markus, Hugh S., Debette, Stephanie, Dichgans, Martin
Published in Nature genetics (01.04.2018)
Published in Nature genetics (01.04.2018)
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Compendium of Immune Signatures Identifies Conserved and Species-Specific Biology in Response to Inflammation
Godec, Jernej, Tan, Yan, Liberzon, Arthur, Tamayo, Pablo, Bhattacharya, Sanchita, Butte, Atul J., Mesirov, Jill P., Haining, W. Nicholas
Published in Immunity (Cambridge, Mass.) (19.01.2016)
Published in Immunity (Cambridge, Mass.) (19.01.2016)
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The support of human genetic evidence for approved drug indications
Nelson, Matthew R, Tipney, Hannah, Painter, Jeffery L, Shen, Judong, Nicoletti, Paola, Shen, Yufeng, Floratos, Aris, Sham, Pak Chung, Li, Mulin Jun, Wang, Junwen, Cardon, Lon R, Whittaker, John C, Sanseau, Philippe
Published in Nature genetics (01.08.2015)
Published in Nature genetics (01.08.2015)
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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists
Li, Marilyn M, Datto, Michael, Duncavage, Eric J, Kulkarni, Shashikant, Lindeman, Neal I, Roy, Somak, Tsimberidou, Apostolia M, Vnencak-Jones, Cindy L, Wolff, Daynna J, Younes, Anas, Nikiforova, Marina N
Published in The Journal of molecular diagnostics : JMD (01.01.2017)
Published in The Journal of molecular diagnostics : JMD (01.01.2017)
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Identity inference of genomic data using long-range familial searches
Erlich, Yaniv, Shor, Tal, Pe’er, Itsik, Carmi, Shai
Published in Science (American Association for the Advancement of Science) (09.11.2018)
Published in Science (American Association for the Advancement of Science) (09.11.2018)
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BLAST+: architecture and applications
Camacho, Christiam, Coulouris, George, Avagyan, Vahram, Ma, Ning, Papadopoulos, Jason, Bealer, Kevin, Madden, Thomas L
Published in BMC bioinformatics (15.12.2009)
Published in BMC bioinformatics (15.12.2009)
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Basic Science and Pathogenesis
Greenfest-Allen, Emily, Valladares, Otto, Gangadharan, Prabhakaran, White, Heather, Kuzma, Amanda B, Kuksa, Pavel P, Lee, Wan-Ping, Leung, Yuk Yee, Wang, Li-San
Published in Alzheimer's & dementia (01.12.2024)
Published in Alzheimer's & dementia (01.12.2024)
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COEXPEDIA: exploring biomedical hypotheses via co-expressions associated with medical subject headings (MeSH)
Yang, Sunmo, Kim, Chan Yeong, Hwang, Sohyun, Kim, Eiru, Kim, Hyojin, Shim, Hongseok, Lee, Insuk
Published in Nucleic acids research (04.01.2017)
Published in Nucleic acids research (04.01.2017)
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The sequences of 150,119 genomes in the UK Biobank
Halldorsson, Bjarni V., Eggertsson, Hannes P., Moore, Kristjan H. S., Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O., Palsson, Gunnar, Hardarson, Marteinn T., Oddsson, Asmundur, Jensson, Brynjar O., Kristmundsdottir, Snaedis, Sigurpalsdottir, Brynja D., Stefansson, Olafur A., Beyter, Doruk, Holley, Guillaume, Tragante, Vinicius, Gylfason, Arnaldur, Olason, Pall I., Zink, Florian, Asgeirsdottir, Margret, Sverrisson, Sverrir T., Sigurdsson, Brynjar, Gudjonsson, Sigurjon A., Sigurdsson, Gunnar T., Halldorsson, Gisli H., Sveinbjornsson, Gardar, Norland, Kristjan, Styrkarsdottir, Unnur, Magnusdottir, Droplaug N., Snorradottir, Steinunn, Kristinsson, Kari, Sobech, Emilia, Jonsson, Helgi, Geirsson, Arni J., Olafsson, Isleifur, Jonsson, Palmi, Pedersen, Ole Birger, Erikstrup, Christian, Brunak, Søren, Ostrowski, Sisse Rye, Thorleifsson, Gudmar, Jonsson, Frosti, Melsted, Pall, Jonsdottir, Ingileif, Rafnar, Thorunn, Holm, Hilma, Stefansson, Hreinn, Saemundsdottir, Jona, Gudbjartsson, Daniel F., Magnusson, Olafur T., Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Jonsson, Hakon, Sulem, Patrick, Stefansson, Kari
Published in Nature (London) (28.07.2022)
Published in Nature (London) (28.07.2022)
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Breast cancer histopathological image classification using a hybrid deep neural network
Yan, Rui, Ren, Fei, Wang, Zihao, Wang, Lihua, Zhang, Tong, Liu, Yudong, Rao, Xiaosong, Zheng, Chunhou, Zhang, Fa
Published in Methods (San Diego, Calif.) (15.02.2020)
Published in Methods (San Diego, Calif.) (15.02.2020)
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MNDR v2.0: an updated resource of ncRNA-disease associations in mammals
Cui, Tianyu, Zhang, Lin, Huang, Yan, Yi, Ying, Tan, Puwen, Zhao, Yue, Hu, Yongfei, Xu, Liyan, Li, Enmin, Wang, Dong
Published in Nucleic acids research (04.01.2018)
Published in Nucleic acids research (04.01.2018)
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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
C Yuen, Ryan K, Merico, Daniele, Bookman, Matt, L Howe, Jennifer, Thiruvahindrapuram, Bhooma, Patel, Rohan V, Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A, Walker, Susan, Marshall, Christian R, Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J S, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L, Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J, Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R, Nalpathamkalam, Thomas, Sung, Wilson W L, Tsoi, Fiona J, Wei, John, Xu, Lizhen, Tasse, Anne-Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie MacKinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M, Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H, Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A, Parr, Jeremy R, Spence, Sarah J, Vorstman, Jacob, Frey, Brendan J, Robinson, James T, Strug, Lisa J, Fernandez, Bridget A, Elsabbagh, Mayada, Carter, Melissa T, Hallmayer, Joachim, Knoppers, Bartha M, Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H, Glazer, David, Pletcher, Mathew T, Scherer, Stephen W
Published in Nature neuroscience (01.04.2017)
Published in Nature neuroscience (01.04.2017)
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Specific features of the oldest old from the Longevity Blue Zones in Ikaria and Sardinia
Poulain, Michel, Herm, Anne, Errigo, Alessandra, Chrysohoou, Christina, Legrand, Romain, Passarino, Giuseppe, Stazi, Maria Antonietta, Voutekatis, Konstantinos G., Gonos, Efstathios S., Franceschi, Claudio, Pes, Giovanni M.
Published in Mechanisms of Ageing and Development (01.09.2021)
Published in Mechanisms of Ageing and Development (01.09.2021)
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Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Li, Yun Rose, Glessner, Joseph T., Coe, Bradley P., Li, Jin, Mohebnasab, Maede, Chang, Xiao, Connolly, John, Kao, Charlly, Wei, Zhi, Bradfield, Jonathan, Kim, Cecilia, Hou, Cuiping, Khan, Munir, Mentch, Frank, Qiu, Haijun, Bakay, Marina, Cardinale, Christopher, Lemma, Maria, Abrams, Debra, Bridglall-Jhingoor, Andrew, Behr, Meckenzie, Harrison, Shanell, Otieno, George, Thomas, Alexandria, Wang, Fengxiang, Chiavacci, Rosetta, Wu, Lawrence, Hadley, Dexter, Goldmuntz, Elizabeth, Elia, Josephine, Maris, John, Grundmeier, Robert, Devoto, Marcella, Keating, Brendan, March, Michael, Pellagrino, Renata, Grant, Struan F. A., Sleiman, Patrick M. A., Li, Mingyao, Eichler, Evan E., Hakonarson, Hakon
Published in Nature communications (14.01.2020)
Published in Nature communications (14.01.2020)
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Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network
Bush, WS, Crosslin, DR, Owusu‐Obeng, A, Wallace, J, Almoguera, B, Basford, MA, Bielinski, SJ, Carrell, DS, Connolly, JJ, Crawford, D, Doheny, KF, Gallego, CJ, Gordon, AS, Keating, B, Kirby, J, Kitchner, T, Manzi, S, Mejia, AR, Pan, V, Perry, CL, Peterson, JF, Prows, CA, Ralston, J, Scott, SA, Scrol, A, Smith, M, Stallings, SC, Veldhuizen, T, Wolf, W, Volpi, S, Wiley, K, Li, R, Manolio, T, Bottinger, E, Brilliant, MH, Carey, D, Chisholm, RL, Chute, CG, Haines, JL, Hakonarson, H, Harley, JB, Holm, IA, Kullo, IJ, Jarvik, GP, Larson, EB, McCarty, CA, Williams, MS, Denny, JC, Rasmussen‐Torvik, LJ, Roden, DM, Ritchie, MD
Published in Clinical pharmacology and therapeutics (01.08.2016)
Published in Clinical pharmacology and therapeutics (01.08.2016)
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PharmGKB: the Pharmacogenomics Knowledge Base
Thorn, Caroline F, Klein, Teri E, Altman, Russ B
Published in Methods in molecular biology (Clifton, N.J.) (2013)
Published in Methods in molecular biology (Clifton, N.J.) (2013)
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Genome‐wide Association Study and Meta‐analysis on Alcohol‐Associated Liver Cirrhosis Identifies Genetic Risk Factors
Schwantes‐An, Tae‐Hwi, Darlay, Rebecca, Mathurin, Philippe, Masson, Steven, Liangpunsakul, Suthat, Mueller, Sebastian, Aithal, Guruprasad P., Eyer, Florian, Gleeson, Dermot, Thompson, Andrew, Muellhaupt, Beat, Stickel, Felix, Soyka, Michael, Goldman, David, Liang, Tiebing, Lumeng, Lawrence, Pirmohamed, Munir, Nalpas, Bertrand, Jacquet, Jean‐Marc, Moirand, Romain, Nahon, Pierre, Naveau, Sylvie, Perney, Pascal, Botwin, Greg, Haber, Paul S., Seitz, Helmut K., Day, Christopher P., Foroud, Tatiana M., Daly, Ann K., Cordell, Heather J., Whitfield, John B., Morgan, Timothy R., Seth, Devanshi
Published in Hepatology (Baltimore, Md.) (01.05.2021)
Published in Hepatology (Baltimore, Md.) (01.05.2021)
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Best (but oft-forgotten) practices: the design, analysis, and interpretation of Mendelian randomization studies
Haycock, Philip C, Burgess, Stephen, Wade, Kaitlin H, Bowden, Jack, Relton, Caroline, Davey Smith, George
Published in The American journal of clinical nutrition (01.04.2016)
Published in The American journal of clinical nutrition (01.04.2016)
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