Exome Sequencing: Applications From the Lab Bench to the Clinic

Por Yang, Yaping, Reid, Jeffrey G., Bainbridge, Matthew N., Buhay, Christian J., Hawes, Alicia C., Wang, Min, Ding, Yan, Eng, Christine M., Beaudet, Arthur L., Gibbs, Richard A., Muzny, Donna
Publicado em 2013

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

Por Lupski, James R, Gonzaga-Jauregui, Claudia, Yang, Yaping, Bainbridge, Matthew N, Jhangiani, Shalini, Buhay, Christian J, Kovar, Christie L, Wang, Min, Hawes, Alicia C, Reid, Jeffrey G, Eng, Christine, Muzny, Donna M, Gibbs, Richard A
Publicado em 2013

Comparative Genomics of Gardnerella vaginalis Strains Reveals Substantial Differences in Metabolic and Virulence Potential

Por Yeoman, Carl J., Yildirim, Suleyman, Thomas, Susan M., Durkin, A. Scott, Torralba, Manolito, Sutton, Granger, Buhay, Christian J., Ding, Yan, Dugan-Rocha, Shannon P., Muzny, Donna M., Qin, Xiang, Gibbs, Richard A., Leigh, Steven R., Stumpf, Rebecca, White, Bryan A., Highlander, Sarah K., Nelson, Karen E., Wilson, Brenda A.
Publicado em 2010

Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes

Por Qin, Xiang, Galloway-Peña, Jessica R, Sillanpaa, Jouko, Roh, Jung Hyeob, Nallapareddy, Sreedhar R, Chowdhury, Shahreen, Bourgogne, Agathe, Choudhury, Tina, Muzny, Donna M, Buhay, Christian J, Ding, Yan, Dugan-Rocha, Shannon, Liu, Wen, Kovar, Christie, Sodergren, Erica, Highlander, Sarah, Petrosino, Joseph F, Worley, Kim C, Gibbs, Richard A, Weinstock, George M, Murray, Barbara E
Publicado em 2012

Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes

Por Hughes, Jennifer F., Skaletsky, Helen, Brown, Laura G., Pyntikova, Tatyana, Graves, Tina, Fulton, Robert S., Dugan, Shannon, Ding, Yan, Buhay, Christian J., Kremitzki, Colin, Wang, Qiaoyan, Shen, Hua, Holder, Michael, Villasana, Donna, Nazareth, Lynne V., Cree, Andrew, Courtney, Laura, Veizer, Joelle, Kotkiewicz, Holland, Cho, Ting-Jan, Koutseva, Natalia, Rozen, Steve, Muzny, Donna M., Warren, Wesley C., Gibbs, Richard A., Wilson, Richard K., Page, David C.
Publicado em 2012

Subtle genetic changes enhance virulence of methicillin resistant and sensitive Staphylococcus aureus

Por Highlander, Sarah K, Hultén, Kristina G, Qin, Xiang, Jiang, Huaiyang, Yerrapragada, Shailaja, Mason, Edward O, Shang, Yue, Williams, Tiffany M, Fortunov, Régine M, Liu, Yamei, Igboeli, Okezie, Petrosino, Joseph, Tirumalai, Madhan, Uzman, Akif, Fox, George E, Cardenas, Ana Maria, Muzny, Donna M, Hemphill, Lisa, Ding, Yan, Dugan, Shannon, Blyth, Peter R, Buhay, Christian J, Dinh, Huyen H, Hawes, Alicia C, Holder, Michael, Kovar, Christie L, Lee, Sandra L, Liu, Wen, Nazareth, Lynne V, Wang, Qiaoyan, Zhou, Jianling, Kaplan, Sheldon L, Weinstock, George M
Publicado em 2007

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

Por Sanghvi, Rashesh V., Buhay, Christian J., Powell, Bradford C., Tsai, Ellen A., Dorschner, Michael O., Hong, Celine S., Lebo, Matthew S., Sasson, Ariella, Hanna, David S., McGee, Sean, Bowling, Kevin M., Cooper, Gregory M., Gray, David E., Lonigro, Robert J., Dunford, Andrew, Brennan, Christine A., Cibulskis, Carrie, Walker, Kimberly, Carneiro, Mauricio O., Sailsbery, Joshua, Hindorff, Lucia A., Robinson, Dan R., Santani, Avni, Sarmady, Mahdi, Rehm, Heidi L., Biesecker, Leslie G., Nickerson, Deborah A., Hutter, Carolyn M., Garraway, Levi, Muzny, Donna M., Wagle, Nikhil
Publicado no Genet Med (2017)

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

Por Biankin, Andrew V., Waddell, Nicola, Kassahn, Karin S., Gingras, Marie-Claude, Muthuswamy, Lakshmi B., Johns, Amber L., Miller, David K., Wilson, Peter J., Patch, Ann-Marie, Wu, Jianmin, Chang, David K., Cowley, Mark J., Gardiner, Brooke B., Song, Sarah, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Gongora, Milena, Pajic, Marina, Scarlett, Christopher J., Gill, Anthony J., Pinho, Andreia V., Rooman, Ilse, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Qinying, Nones, Katia, Fink, J. Lynn, Christ, Angelika, Bruxner, Tim, Cloonan, Nicole, Kolle, Gabriel, Newell, Felicity, Pinese, Mark, Mead, R. Scott, Humphris, Jeremy L., Kaplan, Warren, Jones, Marc D., Colvin, Emily K., Nagrial, Adnan M., Humphrey, Emily S., Chou, Angela, Chin, Venessa T., Chantrill, Lorraine A., Mawson, Amanda, Samra, Jaswinder S., Kench, James G., Lovell, Jessica A., Daly, Roger J., Merrett, Neil D., Toon, Christopher, Epari, Krishna, Nguyen, Nam Q., Barbour, Andrew, Zeps, Nikolajs, Kakkar, Nipun, Zhao, Fengmei, Wu, Yuan Qing, Wang, Min, Muzny, Donna M., Fisher, William E., Brunicardi, F. Charles, Hodges, Sally E., Reid, Jeffrey G., Drummond, Jennifer, Chang, Kyle, Han, Yi, Lewis, Lora R., Dinh, Huyen, Buhay, Christian J., Beck, Timothy, Timms, Lee, Sam, Michelle, Begley, Kimberly, Brown, Andrew, Pai, Deepa, Panchal, Ami, Buchner, Nicholas, De Borja, Richard, Denroche, Robert E., Yung, Christina K., Serra, Stefano, Onetto, Nicole, Mukhopadhyay, Debabrata, Tsao, Ming-Sound, Shaw, Patricia A., Petersen, Gloria M., Gallinger, Steven, Hruban, Ralph H., Maitra, Anirban, Iacobuzio-Donahue, Christine A., Schulick, Richard D., Wolfgang, Christopher L., Morgan, Richard A., Lawlor, Rita T., Capelli, Paola, Corbo, Vincenzo, Scardoni, Maria, Tortora, Giampaolo, Tempero, Margaret A., Mann, Karen M., Jenkins, Nancy A., Perez-Mancera, Pedro A., Adams, David J., Largaespada, David A., Wessels, Lodewyk F. A., Rust, Alistair G., Stein, Lincoln D., Tuveson, David A., Copeland, Neal G., Musgrove, Elizabeth A., Scarpa, Aldo, Eshleman, James R., Hudson, Thomas J., Sutherland, Robert L., Wheeler, David A., Pearson, John V., McPherson, John D., Gibbs, Richard A., Grimmond, Sean M.
Publicado em 2012

A framework for human microbiome research

Por Methé, Barbara A., Nelson, Karen E., Pop, Mihai, Creasy, Heather H., Giglio, Michelle G., Huttenhower, Curtis, Gevers, Dirk, Petrosino, Joseph F., Abubucker, Sahar, Badger, Jonathan H., Chinwalla, Asif T., Earl, Ashlee M., FitzGerald, Michael G., Fulton, Robert S., Hallsworth-Pepin, Kymberlie, Lobos, Elizabeth A., Madupu, Ramana, Magrini, Vincent, Martin, John C., Mitreva, Makedonka, Muzny, Donna M., Sodergren, Erica J., Versalovic, James, Wollam, Aye M., Worley, Kim C., Wortman, Jennifer R., Young, Sarah K., Zeng, Qiandong, Aagaard, Kjersti M., Abolude, Olukemi O., Allen-Vercoe, Emma, Alm, Eric J., Alvarado, Lucia, Andersen, Gary L., Anderson, Scott, Appelbaum, Elizabeth, Arachchi, Harindra M., Armitage, Gary, Arze, Cesar A., Ayvaz, Tulin, Baker, Carl C., Begg, Lisa, Belachew, Tsegahiwot, Bhonagiri, Veena, Bihan, Monika, Blaser, Martin J., Bloom, Toby, Vivien Bonazzi, J., Brooks, Paul, Buck, Gregory A., Buhay, Christian J., Busam, Dana A., Campbell, Joseph L., Canon, Shane R., Cantarel, Brandi L., Chain, Patrick S., Chen, I-Min A., Chen, Lei, Chhibba, Shaila, Chu, Ken, Ciulla, Dawn M., Clemente, Jose C., Clifton, Sandra W., Conlan, Sean, Crabtree, Jonathan, Cutting, Mary A., Davidovics, Noam J., Davis, Catherine C., DeSantis, Todd Z., Deal, Carolyn, Delehaunty, Kimberley D., Dewhirst, Floyd E., Deych, Elena, Ding, Yan, Dooling, David J., Dugan, Shannon P., Dunne, Wm. Michael, Durkin, A. Scott, Edgar, Robert C., Erlich, Rachel L., Farmer, Candace N., Farrell, Ruth M., Faust, Karoline, Feldgarden, Michael, Felix, Victor M., Fisher, Sheila, Fodor, Anthony A., Forney, Larry, Foster, Leslie, Di Francesco, Valentina, Friedman, Jonathan, Friedrich, Dennis C., Fronick, Catrina C., Fulton, Lucinda L., Gao, Hongyu, Garcia, Nathalia, Giannoukos, Georgia, Giblin, Christina, Giovanni, Maria Y., Goldberg, Jonathan M., Goll, Johannes, Gonzalez, Antonio, Griggs, Allison, Gujja, Sharvari, Haas, Brian J., Hamilton, Holli A., Harris, Emily L., Hepburn, Theresa A., Herter, Brandi, Hoffmann, Diane E., Holder, Michael E., Howarth, Clinton, Huang, Katherine H., Huse, Susan M., Izard, Jacques, Jansson, Janet K., Jiang, Huaiyang, Jordan, Catherine, Joshi, Vandita, Katancik, James A., Keitel, Wendy A., Kelley, Scott T., Kells, Cristyn, Kinder-Haake, Susan, King, Nicholas B., Knight, Rob, Knights, Dan, Kong, Heidi H., Koren, Omry, Koren, Sergey, Kota, Karthik C., Kovar, Christie L., Kyrpides, Nikos C., La Rosa, Patricio S., Lee, Sandra L., Lemon, Katherine P., Lennon, Niall, Lewis, Cecil M., Lewis, Lora, Ley, Ruth E., Li, Kelvin, Liolios, Konstantinos, Liu, Bo, Liu, Yue, Lo, Chien-Chi, Lozupone, Catherine A., Lunsford, R. Dwayne, Madden, Tessa, Mahurkar, Anup A., Mannon, Peter J., Mardis, Elaine R., Markowitz, Victor M., Mavrommatis, Konstantinos, McCorrison, Jamison M., McDonald, Daniel, McEwen, Jean, McGuire, Amy L., McInnes, Pamela, Mehta, Teena, Mihindukulasuriya, Kathie A., Miller, Jason R., Minx, Patrick J., Newsham, Irene, Nusbaum, Chad, O’Laughlin, Michelle, Orvis, Joshua, Pagani, Ioanna, Palaniappan, Krishna, Patel, Shital M., Pearson, Matthew, Peterson, Jane, Podar, Mircea, Pohl, Craig, Pollard, Katherine S., Priest, Margaret E., Proctor, Lita M., Qin, Xiang, Raes, Jeroen, Ravel, Jacques, Reid, Jeffrey G., Rho, Mina, Rhodes, Rosamond, Riehle, Kevin P., Rivera, Maria C., Rodriguez-Mueller, Beltran, Rogers, Yu-Hui, Ross, Matthew C., Russ, Carsten, Sanka, Ravi K., Pamela Sankar, J., Sathirapongsasuti, Fah, Schloss, Jeffery A., Schloss, Patrick D., Schmidt, Thomas M., Scholz, Matthew, Schriml, Lynn, Schubert, Alyxandria M., Segata, Nicola, Segre, Julia A., Shannon, William D., Sharp, Richard R., Sharpton, Thomas J., Shenoy, Narmada, Sheth, Nihar U., Simone, Gina A., Singh, Indresh, Smillie, Chris S., Sobel, Jack D., Sommer, Daniel D., Spicer, Paul, Sutton, Granger G., Sykes, Sean M., Tabbaa, Diana G., Thiagarajan, Mathangi, Tomlinson, Chad M., Torralba, Manolito, Treangen, Todd J., Truty, Rebecca M., Vishnivetskaya, Tatiana A., Walker, Jason, Wang, Lu, Wang, Zhengyuan, Ward, Doyle V., Warren, Wesley, Watson, Mark A., Wellington, Christopher, Wetterstrand, Kris A., White, James R., Wilczek-Boney, Katarzyna, Wu, Yuan Qing, Wylie, Kristine M., Wylie, Todd, Yandava, Chandri, Ye, Liang, Ye, Yuzhen, Yooseph, Shibu, Youmans, Bonnie P., Zhang, Lan, Zhou, Yanjiao, Zhu, Yiming, Zoloth, Laurie, Zucker, Jeremy D., Birren, Bruce W., Gibbs, Richard A., Highlander, Sarah K., Weinstock, George M., Wilson, Richard K., White, Owen
Publicado em 2012