The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line

Por Adey, Andrew, Burton, Joshua N., Kitzman, Jacob O., Hiatt, Joseph B., Lewis, Alexandra P., Martin, Beth K., Qiu, Ruolan, Lee, Choli, Shendure, Jay
Publicado em 2013

Recurrent Somatic Loss of TNFRSF14 in Classical Hodgkin Lymphoma

Por Salipante, Stephen J., Adey, Andrew, Thomas, Anju, Lee, Choli, Liu, Yajuan J., Kumar, Akash, Lewis, Alexandra P., Wu, David, Fromm, Jonathan R., Shendure, Jay
Publicado no Genes Chromosomes Cancer (2015)

Whole genome prediction for preimplantation genetic diagnosis

Por Kumar, Akash, Ryan, Allison, Kitzman, Jacob O, Wemmer, Nina, Snyder, Matthew W, Sigurjonsson, Styrmir, Lee, Choli, Banjevic, Milena, Zarutskie, Paul W, Lewis, Alexandra P, Shendure, Jay, Rabinowitz, Matthew
Publicado no Genome Med (2015)

Non-Invasive Fetal Genome Sequencing: Opportunities and Challenges

Por Tabor, Holly K., Murray, Jeffrey C., Gammill, Hilary S., Kitzman, Jacob O., Snyder, Matthew W., Ventura, Mario, Lewis, Alexandra P., Qiu, Ruolan, Simmons, LaVone E., Rubens, Craig E., Santillan, Donna A., Eichler, Evan E., Bamshad, Michael J., Shendure, Jay
Publicado em 2012

Non-invasive whole genome sequencing of a human fetus

Por Kitzman, Jacob O., Snyder, Matthew W., Ventura, Mario, Lewis, Alexandra P., Qiu, Ruolan, Simmons, LaVone E., Gammill, Hilary S., Rubens, Craig E., Santillan, Donna A., Murray, Jeffrey C., Tabor, Holly K., Bamshad, Michael J., Eichler, Evan E., Shendure, Jay
Publicado em 2012

Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes

Por Hsieh, PingHsun, Vollger, Mitchell R., Dang, Vy, Porubsky, David, Baker, Carl, Cantsilieris, Stuart, Hoekzema, Kendra, Lewis, Alexandra P., Munson, Katherine M., Sorensen, Melanie, Kronenberg, Zev N., Murali, Shwetha, Nelson, Bradley J., Chiatante, Giorgia, Maggiolini, Flavia Angela Maria, Blanché, Hélène, Underwood, Jason G., Antonacci, Francesca, Deleuze, Jean-François, Eichler, Evan E.
Publicado no Science (2019)

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Por Knowles, Michael R., Leigh, Margaret W., Ostrowski, Lawrence E., Huang, Lu, Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Berg, Jonathan S., Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Rosenfeld, Margaret, Sagel, Scott D., Milla, Carlos E., Olivier, Kenneth N., Turner, Emily H., Lewis, Alexandra P., Bamshad, Michael J., Nickerson, Deborah A., Shendure, Jay, Zariwala, Maimoona A.
Publicado em 2013

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

Por Knowles, Michael R., Ostrowski, Lawrence E., Loges, Niki T., Hurd, Toby, Leigh, Margaret W., Huang, Lu, Wolf, Whitney E., Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Sagel, Scott D., Olivier, Kenneth N., Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Wallmeier, Julia, Pennekamp, Petra, Dougherty, Gerard W., Hjeij, Rim, Gee, Heon Yung, Otto, Edgar A., Halbritter, Jan, Chaki, Moumita, Diaz, Katrina A., Braun, Daniela A., Porath, Jonathan D., Schueler, Markus, Baktai, György, Griese, Matthias, Turner, Emily H., Lewis, Alexandra P., Bamshad, Michael J., Nickerson, Deborah A., Hildebrandt, Friedhelm, Shendure, Jay, Omran, Heymut, Zariwala, Maimoona A.
Publicado em 2013

Sequence diversity analyses of an improved rhesus macaque genome enhances its biomedical utility

Por Warren, Wesley C., Harris, R. Alan, Haukness, Marina, Fiddes, Ian T., Murali, Shwetha C., Fernandes, Jason, Dishuck, Philip C., Storer, Jessica M., Raveendran, Muthuswamy, Hillier, LaDeana W., Porubsky, David, Mao, Yafei, Gordon, David, Vollger, Mitchell R., Lewis, Alexandra P., Munson, Katherine M., DeVogelaere, Elizabeth, Armstrong, Joel, Diekhans, Mark, Walker, Jerilyn A., Tomlinson, Chad, Graves-Lindsay, Tina A., Kremitzki, Milinn, Salama, Sofie R., Audano, Peter A., Escalona, Merly, Maurer, Nicholas W., Antonacci, Francesca, Mercuri, Ludovica, Maggiolini, Flavia A.M., Catacchio, Claudia Rita, Underwood, Jason G., O’Connor, David H., Sanders, Ashley D., Korbel, Jan O., Ferguson, Betsy, Kubisch, H. Michael, Picker, Louis, Kalin, Ned H., Rosene, Douglas, Levine, Jon, Abbott, David H., Gray, Stanton B., Sanchez, Mar M., Kovacs-Balint, Zsofia A., Kemnitz, Joseph W., Thomasy, Sara M., Roberts, Jeffrey A., Kinnally, Erin L., Capitanio, John P., Skene, J.H. Pate, Platt, Michael, Cole, Shelley A., Green, Richard E., Ventura, Mario, Wiseman, Roger W., Paten, Benedict, Batzer, Mark A., Rogers, Jeffrey, Eichler, Evan E.
Publicado no Science (2020)

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Por Ebert, Peter, Audano, Peter A., Zhu, Qihui, Rodriguez-Martin, Bernardo, Porubsky, David, Bonder, Marc Jan, Sulovari, Arvis, Ebler, Jana, Zhou, Weichen, Mari, Rebecca Serra, Yilmaz, Feyza, Zhao, Xuefang, Hsieh, PingHsun, Lee, Joyce, Kumar, Sushant, Lin, Jiadong, Rausch, Tobias, Chen, Yu, Ren, Jingwen, Santamarina, Martin, Höps, Wolfram, Ashraf, Hufsah, Chuang, Nelson T., Yang, Xiaofei, Munson, Katherine M., Lewis, Alexandra P., Fairley, Susan, Tallon, Luke J., Clarke, Wayne E., Basile, Anna O., Byrska-Bishop, Marta, Corvelo, André, Evani, Uday S., Lu, Tsung-Yu, Chaisson, Mark J.P., Chen, Junjie, Li, Chong, Brand, Harrison, Wenger, Aaron M., Ghareghani, Maryam, Harvey, William T., Raeder, Benjamin, Hasenfeld, Patrick, Regier, Allison A., Abel, Haley J., Hall, Ira M., Flicek, Paul, Stegle, Oliver, Gerstein, Mark B., Tubio, Jose M.C., Mu, Zepeng, Li, Yang I., Shi, Xinghua, Hastie, Alex R., Ye, Kai, Chong, Zechen, Sanders, Ashley D., Zody, Michael C., Talkowski, Michael E., Mills, Ryan E., Devine, Scott E., Lee, Charles, Korbel, Jan O., Marschall, Tobias, Eichler, Evan E.
Publicado no Science (2021)