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Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
Zhan, Xiaowei, Larson, David E, Wang, Chaolong, Koboldt, Daniel C, Sergeev, Yuri V, Fulton, Robert S, Fulton, Lucinda L, Fronick, Catrina C, Branham, Kari E, Bragg-Gresham, Jennifer, Jun, Goo, Hu, Youna, Kang, Hyun Min, Liu, Dajiang, Othman, Mohammad, Brooks, Matthew, Ratnapriya, Rinki, Boleda, Alexis, Grassmann, Felix, von Strachwitz, Claudia, Olson, Lana M, Buitendijk, Gabriëlle H S, Hofman, Albert, van Duijn, Cornelia M, Cipriani, Valentina, Moore, Anthony T, Shahid, Humma, Jiang, Yingda, Conley, Yvette P, Morgan, Denise J, Kim, Ivana K, Johnson, Matthew P, Cantsilieris, Stuart, Richardson, Andrea J, Guymer, Robyn H, Luo, Hongrong, Ouyang, Hong, Licht, Christoph, Pluthero, Fred G, Zhang, Mindy M, Zhang, Kang, Baird, Paul N, Blangero, John, Klein, Michael L, Farrer, Lindsay A, DeAngelis, Margaret M, Weeks, Daniel E, Gorin, Michael B, Yates, John R W, Klaver, Caroline C W, Pericak-Vance, Margaret A, Haines, Jonathan L, Weber, Bernhard H F, Wilson, Richard K, Heckenlively, John R, Chew, Emily Y, Stambolian, Dwight, Mardis, Elaine R, Swaroop, Anand, Abecasis, Goncalo R
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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Journal Article
A survey of the complex transcriptome from the highly polyploid sugarcane genome using full-length isoform sequencing and de novo assembly from short read sequencing
Hoang, Nam V., Furtado, Agnelo, Mason, Patrick J., Marquardt, Annelie, Kasirajan, Lakshmi, Thirugnanasambandam, Prathima P., Botha, Frederik C., Henry, Robert J.
Published in BMC genomics (22.05.2017)
Published in BMC genomics (22.05.2017)
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Journal Article
MACSE: Multiple Alignment of Coding SEquences Accounting for Frameshifts and Stop Codons
Ranwez, Vincent, Harispe, Sébastien, Delsuc, Frédéric, Douzery, Emmanuel J. P.
Published in PloS one (16.09.2011)
Published in PloS one (16.09.2011)
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Journal Article
The Mutational Landscape of Head and Neck Squamous Cell Carcinoma
Published in Science (American Association for the Advancement of Science)
(26.08.2011)
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Journal Article
Integrating gene annotation with orthology inference at scale
Published in Science (American Association for the Advancement of Science)
(28.04.2023)
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Journal Article
Topoly: Python package to analyze topology of polymers
Dabrowski-Tumanski, Pawel, Rubach, Pawel, Niemyska, Wanda, Gren, Bartosz Ambrozy, Sulkowska, Joanna Ida
Published in Briefings in bioinformatics (20.05.2021)
Published in Briefings in bioinformatics (20.05.2021)
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Journal Article
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning
Published in Science (American Association for the Advancement of Science)
(28.04.2023)
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Journal Article
BubbleDet: a Python package to compute functional determinants for bubble nucleation
Ekstedt, Andreas, Gould, Oliver, Hirvonen, Joonas
Published in The journal of high energy physics (11.12.2023)
Published in The journal of high energy physics (11.12.2023)
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Journal Article
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
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)
Published in Nature (London) (05.02.2015)
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Journal Article
The genome of woodland strawberry (Fragaria vesca)
Shulaev, Vladimir, Sargent, Daniel J, Crowhurst, Ross N, Mockler, Todd C, Folkerts, Otto, Delcher, Arthur L, Jaiswal, Pankaj, Mockaitis, Keithanne, Liston, Aaron, Mane, Shrinivasrao P, Burns, Paul, Davis, Thomas M, Slovin, Janet P, Bassil, Nahla, Hellens, Roger P, Evans, Clive, Harkins, Tim, Kodira, Chinnappa, Desany, Brian, Crasta, Oswald R, Jensen, Roderick V, Allan, Andrew C, Michael, Todd P, Setubal, Joao Carlos, Celton, Jean-Marc, Rees, D Jasper G, Williams, Kelly P, Holt, Sarah H, Rojas, Juan Jairo Ruiz, Chatterjee, Mithu, Liu, Bo, Silva, Herman, Meisel, Lee, Adato, Avital, Filichkin, Sergei A, Troggio, Michela, Viola, Roberto, Ashman, Tia-Lynn, Wang, Hao, Dharmawardhana, Palitha, Elser, Justin, Raja, Rajani, Priest, Henry D, Bryant, Douglas W, Fox, Samuel E, Givan, Scott A, Wilhelm, Larry J, Naithani, Sushma, Christoffels, Alan, Salama, David Y, Carter, Jade, Girona, Elena Lopez, Zdepski, Anna, Wang, Wenqin, Kerstetter, Randall A, Schwab, Wilfried, Korban, Schuyler S, Davik, Jahn, Monfort, Amparo, Denoyes-Rothan, Beatrice, Arus, Pere, Mittler, Ron, Flinn, Barry, Aharoni, Asaph, Bennetzen, Jeffrey L, Salzberg, Steven L, Dickerman, Allan W, Velasco, Riccardo, Borodovsky, Mark, Veilleux, Richard E, Folta, Kevin M
Published in Nature genetics (01.02.2011)
Published in Nature genetics (01.02.2011)
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Journal Article
Towards complete and error-free genome assemblies of all vertebrate species
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)
Published in Nature (London) (29.04.2021)
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Journal Article
Quantum Parallel Processing Framework for Image Processing Applications
Salcedo, Juan Carlos, Ahmed, Khaled
Published in Proceedings - International Symposium on Autonomous Decentralized Systems (21.07.2025)
Published in Proceedings - International Symposium on Autonomous Decentralized Systems (21.07.2025)
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Conference Proceeding
Integrating scientific knowledge into machine learning using interactive decision trees
Sarailidis, Georgios, Wagener, Thorsten, Pianosi, Francesca
Published in Computers & geosciences (01.01.2023)
Published in Computers & geosciences (01.01.2023)
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Journal Article
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye
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)
Published in JAMA : the journal of the American Medical Association (23.02.2021)
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Journal Article
Semi-automated assembly of high-quality diploid human reference genomes
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)
Published in Nature (London) (17.11.2022)
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Journal Article