Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

Bằng Costello, Maura, Pugh, Trevor J., Fennell, Timothy J., Stewart, Chip, Lichtenstein, Lee, Meldrim, James C., Fostel, Jennifer L., Friedrich, Dennis C., Perrin, Danielle, Dionne, Danielle, Kim, Sharon, Gabriel, Stacey B., Lander, Eric S., Fisher, Sheila, Getz, Gad
Được phát hành 2013

A scalable, fully automated process for construction of sequence-ready barcoded libraries for 454

Bằng Lennon, Niall J, Lintner, Robert E, Anderson, Scott, Alvarez, Pablo, Barry, Andrew, Brockman, William, Daza, Riza, Erlich, Rachel L, Giannoukos, Georgia, Green, Lisa, Hollinger, Andrew, Hoover, Cindi A, Jaffe, David B, Juhn, Frank, McCarthy, Danielle, Perrin, Danielle, Ponchner, Karen, Powers, Taryn L, Rizzolo, Kamran, Robbins, Dana, Ryan, Elizabeth, Russ, Carsten, Sparrow, Todd, Stalker, John, Steelman, Scott, Weiand, Michael, Zimmer, Andrew, Henn, Matthew R, Nusbaum, Chad, Nicol, Robert
Được phát hành 2010

MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition

Bằng Wagle, Nikhil, Van Allen, Eliezer M., Treacy, Daniel J., Frederick, Dennie T., Cooper, Zachary A., Taylor-Weiner, Amaro, Rosenberg, Mara, Goetz, Eva M., Sullivan, Ryan J., Farlow, Deborah N., Friedrich, Dennis C., Anderka, Kristin, Perrin, Danielle, Johannessen, Cory M., McKenna, Aaron, Cibulskis, Kristian, Kryukov, Gregory, Hodis, Eran, Lawrence, Donald P., Fisher, Sheila, Getz, Gad, Gabriel, Stacey B., Carter, Scott L., Flaherty, Keith T., Wargo, Jennifer A., Garraway, Levi A.
Được phát hành 2013

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Bằng Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B., Seabra, Catarina M., Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Stephan J., Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.
Xuất bản năm Genome Biol (2017)

Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine

Bằng Allen, Eliezer M. Van, Wagle, Nikhil, Stojanov, Petar, Perrin, Danielle L., Cibulskis, Kristian, Marlow, Sara, Jane-Valbuena, Judit, Friedrich, Dennis C., Kryukov, Gregory, Carter, Scott L., McKenna, Aaron, Sivachenko, Andrey, Rosenberg, Mara, Kiezun, Adam, Voet, Douglas, Lawrence, Michael, Lichtenstein, Lee T., Gentry, Jeff G., Huang, Franklin W., Fostel, Jennifer, Farlow, Deborah, Barbie, David, Gandhi, Leena, Lander, Eric S., Gray, Stacy W., Joffe, Steven, Janne, Pasi, Garber, Judy, MacConaill, Laura, Lindeman, Neal, Rollins, Barrett, Kantoff, Philip, Fisher, Sheila A., Gabriel, Stacey, Getz, Gad, Garraway, Levi A.
Được phát hành 2014

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

Bằng Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet’al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Lander, Eric S., Daly, Mark J.
Được phát hành 2013

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

Bằng Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.
Xuất bản năm Nat Genet (2016)