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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

by Do, Ron, Stitziel, Nathan O., Won, Hong-Hee, Jørgensen, Anders Berg, Duga, Stefano, Angelica Merlini, Pier, Kiezun, Adam, Farrall, Martin, Goel, Anuj, Zuk, Or, Guella, Illaria, Asselta, Rosanna, Lange, Leslie A., Peloso, Gina M., Auer, Paul L., Girelli, Domenico, Martinelli, Nicola, Farlow, Deborah N., DePristo, Mark A., Roberts, Robert, Stewart, Alexander F. R., Saleheen, Danish, Danesh, John, Epstein, Stephen E., Sivapalaratnam, Suthesh, Kees Hovingh, G., Kastelein, John J., Samani, Nilesh J., Schunkert, Heribert, Erdmann, Jeanette, Shah, Svati H., Kraus, William E., Davies, Robert, Nikpay, Majid, Johansen, Christopher T., Wang, Jian, Hegele, Robert A., Hechter, Eliana, Marz, Winfried, Kleber, Marcus E., Huang, Jie, Johnson, Andrew D., Li, Mingyao, Burke, Greg L., Gross, Myron, Liu, Yongmei, Assimes, Themistocles L., Heiss, Gerardo, Lange, Ethan M., Folsom, Aaron R., Taylor, Herman A., Olivieri, Oliviero, Hamsten, Anders, Clarke, Robert, Reilly, Dermot F., Yin, Wu, Rivas, Manuel A., Donnelly, Peter, Rossouw, Jacques E., Psaty, Bruce M., Herrington, David M., Wilson, James G., Rich, Stephen S., Bamshad, Michael J., Tracy, Russell P., Adrienne Cupples, L., Rader, Daniel J., Reilly, Muredach P., Spertus, John A., Cresci, Sharon, Hartiala, Jaana, Wilson Tang, W. H., Hazen, Stanley L., Allayee, Hooman, Reiner, Alex P., Carlson, Christopher S., Kooperberg, Charles, Jackson, Rebecca D., Boerwinkle, Eric, Lander, Eric S., Schwartz, Stephen M., Siscovick, David S., McPherson, Ruth, Tybjaerg-Hansen, Anne, Abecasis, Goncalo R., Watkins, Hugh, Nickerson, Deborah A., Ardissino, Diego, Sunyaev, Shamil R., O'Donnell, Christopher J., Altshuler, David, Gabriel, Stacey, Kathiresan, Sekar
Published in Nature (London) (05.02.2015)

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Towards complete and error-free genome assemblies of all vertebrate species

by McCarthy, Shane A., Fedrigo, Olivier, Damas, Joana, Formenti, Giulio, Koren, Sergey, Uliano-Silva, Marcela, Chow, William, Fungtammasan, Arkarachai, Kim, Juwan, Lee, Chul, Chaisson, Mark, Gedman, Gregory L., Cantin, Lindsey J., Haggerty, Leanne, Bista, Iliana, Smith, Michelle, Haase, Bettina, Winkler, Sylke, Paez, Sadye, Howard, Jason, Vernes, Sonja C., Grutzner, Frank, Balakrishnan, Christopher N., Burt, Dave, George, Julia M., Biegler, Matthew T., Iorns, David, Digby, Andrew, Robertson, Bruce, Edwards, Taylor, Meyer, Axel, Kautt, Andreas F., Franchini, Paolo, Detrich, H. William, Naylor, Gavin J. P., Pippel, Martin, Malinsky, Milan, Mooney, Mark, Simbirsky, Maria, Hannigan, Brett T., Pesout, Trevor, Misuraca, Ann, Kingan, Sarah B., Hall, Richard, Kronenberg, Zev, Sović, Ivan, Dunn, Christopher, Ning, Zemin, Lee, Joyce, Selvaraj, Siddarth, Gut, Ivo, Ghurye, Jay, Garrison, Erik, Sims, Ying, Collins, Joanna, Pelan, Sarah, Torrance, James, Dagnew, Robel E., Guan, Dengfeng, London, Sarah E., Clayton, David F., Mello, Claudio V., Friedrich, Samantha R., Lovell, Peter V., Osipova, Ekaterina, Al-Ajli, Farooq O., Secomandi, Simona, Kim, Heebal, Theofanopoulou, Constantina, Hiller, Michael, Zhou, Yang, Harris, Robert S., Makova, Kateryna D., Medvedev, Paul, Masterson, Patrick, Clark, Karen, Martin, Fergal, Howe, Kevin, Walenz, Brian P., Kwak, Woori, Clawson, Hiram, Diekhans, Mark, Paten, Benedict, Gilbert, M. Thomas P., Zhang, Guojie, Venkatesh, Byrappa, Murphy, Robert W., Koepfli, Klaus-Peter, Shapiro, Beth, Di Palma, Federica, Marques-Bonet, Tomas, Teeling, Emma C., Warnow, Tandy, Graves, Jennifer Marshall, Ryder, Oliver A., Haussler, David, Howe, Kerstin, Myers, Eugene W., Durbin, Richard, Phillippy, Adam M.
Published in Nature (London) (29.04.2021)

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Semi-automated assembly of high-quality diploid human reference genomes

by Jarvis, Erich D., Formenti, Giulio, Rhie, Arang, Guarracino, Andrea, Yang, Chentao, Wood, Jonathan, Tracey, Alan, Thibaud-Nissen, Francoise, Vollger, Mitchell R., Porubsky, David, Cheng, Haoyu, Asri, Mobin, Logsdon, Glennis A., Carnevali, Paolo, Chaisson, Mark J. P., Chin, Chen-Shan, Cody, Sarah, Collins, Joanna, Ebert, Peter, Escalona, Merly, Fedrigo, Olivier, Fulton, Robert S., Fulton, Lucinda L., Garg, Shilpa, Gerton, Jennifer L., Ghurye, Jay, Granat, Anastasiya, Green, Richard E., Harvey, William, Hasenfeld, Patrick, Hastie, Alex, Haukness, Marina, Jaeger, Erich B., Jain, Miten, Kirsche, Melanie, Kolmogorov, Mikhail, Korbel, Jan O., Koren, Sergey, Korlach, Jonas, Lee, Joyce, Li, Daofeng, Lindsay, Tina, Lucas, Julian, Luo, Feng, Marschall, Tobias, Mitchell, Matthew W., McDaniel, Jennifer, Nie, Fan, Olsen, Hugh E., Olson, Nathan D., Pesout, Trevor, Potapova, Tamara, Puiu, Daniela, Regier, Allison, Ruan, Jue, Salzberg, Steven L., Sanders, Ashley D., Schatz, Michael C., Schmitt, Anthony, Schneider, Valerie A., Selvaraj, Siddarth, Shafin, Kishwar, Shumate, Alaina, Stitziel, Nathan O., Stober, Catherine, Torrance, James, Wagner, Justin, Wang, Jianxin, Wenger, Aaron, Xiao, Chuanle, Zimin, Aleksey V., Zhang, Guojie, Wang, Ting, Li, Heng, Garrison, Erik, Haussler, David, Hall, Ira, Zook, Justin M., Eichler, Evan E., Phillippy, Adam M., Paten, Benedict, Howe, Kerstin, Miga, Karen H.
Published in Nature (London) (17.11.2022)

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Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye

by Lee, Mei Chin, Zenkel, Matthias, Peh, Esther, Ozaki, Mineo, Topouzis, Fotis, Nakano, Satoko, Chan, Anita, Chen, Shuwen, Orr, Andrew, Nakano, Masakazu, Kobakhidze, Nino, Zarnowski, Tomasz, Popa-Cherecheanu, Alina, Mizoguchi, Takanori, Manabe, Shin-ichi, Hayashi, Ken, Kazama, Shigeyasu, Inoue, Kenji, Mori, Yosai, Miyata, Kazunori, Sugiyama, Kazuhisa, Higashide, Tomomi, Chihara, Etsuo, Ideta, Ryuichi, Ishiko, Satoshi, Kiuchi, Yoshiaki, Ohashi, Tsutomu, Sugimoto, Takako, Chuman, Hideki, Aihara, Makoto, Mori, Kazuhiko, Ikeda, Yoko, Rafuse, Paul, Shuba, Lesya, Saunders, Joseph, Nicolela, Marcelo, Chichua, George, Tabagari, Sergo, Founti, Panayiota, Sim, Kar Seng, Soo, Hui Meng, Chen, Xiao Yin, Chatzikyriakidou, Anthi, Keskini, Christina, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Panagiotou, Evangelia S, Mikropoulos, Dimitrios G, Kosior-Jarecka, Ewa, Lukasik, Urszula, Husain, Rahat, Perera, Shamira A, Álvarez, Lydia, García, Montserrat, González-Iglesias, Héctor, Fernández-Vega Cueto, Andrés, Fernández-Vega Cueto, Luis, Martinón-Torres, Federico, Salas, Antonio, Oguz, Çilingir, Tamcelik, Nevbahar, Atalay, Eray, Batu, Bilge, Irkec, Murat, Aktas, Dilek, Kasim, Burcu, Astakhov, Yury S, Astakhov, Sergei Y, Akopov, Eugeny L, Giessl, Andreas, Mardin, Christian, Hellerbrand, Claus, Cooke Bailey, Jessica N, Igo, Robert P, Haines, Jonathan L, Edward, Deepak P, Davila, Sonia, Tan, Patrick, Kang, Jae H, Pasquale, Louis R, Kruse, Friedrich E, Reis, André, Carmichael, Trevor R, Hauser, Michael, Ramsay, Michele, Mossböck, Georg, Tashiro, Kei, Konstas, Anastasios G. P, Coca-Prados, Miguel, Foo, Jia Nee, Kinoshita, Shigeru, Sotozono, Chie, Kubota, Toshiaki, Dubina, Michael, Ritch, Robert, Schlötzer-Schrehardt, Ursula, Ho, Ying Swan, Aung, Tin, Tam, Wai Leong
Published in JAMA : the journal of the American Medical Association (23.02.2021)

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