Long-read sequence and assembly of segmental duplications

di Vollger, Mitchell R., Dishuck, Philip C., Sorensen, Melanie, Welch, AnneMarie E., Dang, Vy, Dougherty, Max L., Graves-Lindsay, Tina A., Wilson, Richard K., Chaisson, Mark J. P., Eichler, Evan E.
Pubblicato in Nat Methods (2018)

Single haplotype assembly of the human genome from a hydatidiform mole

di Steinberg, Karyn Meltz, Schneider, Valerie A., Graves-Lindsay, Tina A., Fulton, Robert S., Agarwala, Richa, Huddleston, John, Shiryev, Sergey A., Morgulis, Aleksandr, Surti, Urvashi, Warren, Wesley C., Church, Deanna M., Eichler, Evan E., Wilson, Richard K.
Pubblicato in Genome Res (2014)

Discovery and genotyping of structural variation from long-read haploid genome sequence data

di Huddleston, John, Chaisson, Mark J.P., Steinberg, Karyn Meltz, Warren, Wes, Hoekzema, Kendra, Gordon, David, Graves-Lindsay, Tina A., Munson, Katherine M., Kronenberg, Zev N., Vives, Laura, Peluso, Paul, Boitano, Matthew, Chin, Chen-Shin, Korlach, Jonas, Wilson, Richard K., Eichler, Evan E.
Pubblicato in Genome Res (2017)

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

di Huddleston, John, Chaisson, Mark J.P., Steinberg, Karyn Meltz, Warren, Wes, Hoekzema, Kendra, Gordon, David, Graves-Lindsay, Tina A., Munson, Katherine M., Kronenberg, Zev N., Vives, Laura, Peluso, Paul, Boitano, Matthew, Chin, Chen-Shin, Korlach, Jonas, Wilson, Richard K., Eichler, Evan E.
Pubblicato in Genome Res (2018)

Characterizing the Major Structural Variant Alleles of the Human Genome

di Audano, Peter A., Sulovari, Arvis, Graves-Lindsay, Tina A., Cantsilieris, Stuart, Sorensen, Melanie, Welch, AnneMarie E., Dougherty, Max L., Nelson, Bradley J., Shah, Ankeeta, Dutcher, Susan K., Warren, Wesley C., Magrini, Vincent, McGrath, Sean D., Li, Yang I., Wilson, Richard K., Eichler, Evan E.
Pubblicato in Cell (2019)

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family

di Cantsilieris, Stuart, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Penewit, Kelsi, Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Dang, Vy, Grassmann, Felix, Richardson, Andrea J., Guymer, Robyn H., Graves-Lindsay, Tina A., Wilson, Richard K., Weber, Bernhard H. F., Baird, Paul N., Allikmets, Rando, Eichler, Evan E.
Pubblicato in Proc Natl Acad Sci U S A (2018)

Sequence analysis in Bos taurus reveals pervasiveness of X–Y arms races in mammalian lineages

di Hughes, Jennifer F., Skaletsky, Helen, Pyntikova, Tatyana, Koutseva, Natalia, Raudsepp, Terje, Brown, Laura G., Bellott, Daniel W., Cho, Ting-Jan, Dugan-Rocha, Shannon, Khan, Ziad, Kremitzki, Colin, Fronick, Catrina, Graves-Lindsay, Tina A., Fulton, Lucinda, Warren, Wesley C., Wilson, Richard K., Owens, Elaine, Womack, James E., Murphy, William J., Muzny, Donna M., Worley, Kim C., Chowdhary, Bhanu P., Gibbs, Richard A., Page, David C.
Pubblicato in Genome Res (2020)

A chromosome-level genome of Astyanax mexicanus surface fish for comparing population-specific genetic differences contributing to trait evolution

di Warren, Wesley C., Boggs, Tyler E., Borowsky, Richard, Carlson, Brian M., Ferrufino, Estephany, Gross, Joshua B., Hillier, LaDeana, Hu, Zhilian, Keene, Alex C., Kenzior, Alexander, Kowalko, Johanna E., Tomlinson, Chad, Kremitzki, Milinn, Lemieux, Madeleine E., Graves-Lindsay, Tina, McGaugh, Suzanne E., Miller, Jeffrey T., Mommersteeg, Mathilda T. M., Moran, Rachel L., Peuß, Robert, Rice, Edward S., Riddle, Misty R., Sifuentes-Romero, Itzel, Stanhope, Bethany A., Tabin, Clifford J., Thakur, Sunishka, Yamamoto, Yoshiyuki, Rohner, Nicolas
Pubblicato in Nat Commun (2021)

The structure, function and evolution of a complete human chromosome 8

di Logsdon, Glennis A., Vollger, Mitchell R., Hsieh, PingHsun, Mao, Yafei, Liskovykh, Mikhail A., Koren, Sergey, Nurk, Sergey, Mercuri, Ludovica, Dishuck, Philip C., Rhie, Arang, de Lima, Leonardo G., Dvorkina, Tatiana, Porubsky, David, Harvey, William T., Mikheenko, Alla, Bzikadze, Andrey V., Kremitzki, Milinn, Graves-Lindsay, Tina A., Jain, Chirag, Hoekzema, Kendra, Murali, Shwetha C., Munson, Katherine M., Baker, Carl, Sorensen, Melanie, Lewis, Alexandra M., Surti, Urvashi, Gerton, Jennifer L., Larionov, Vladimir, Ventura, Mario, Miga, Karen H., Phillippy, Adam M., Eichler, Evan E.
Pubblicato in Nature (2021)

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

di Schneider, Valerie A., Graves-Lindsay, Tina, Howe, Kerstin, Bouk, Nathan, Chen, Hsiu-Chuan, Kitts, Paul A., Murphy, Terence D., Pruitt, Kim D., Thibaud-Nissen, Françoise, Albracht, Derek, Fulton, Robert S., Kremitzki, Milinn, Magrini, Vincent, Markovic, Chris, McGrath, Sean, Steinberg, Karyn Meltz, Auger, Kate, Chow, William, Collins, Joanna, Harden, Glenn, Hubbard, Timothy, Pelan, Sarah, Simpson, Jared T., Threadgold, Glen, Torrance, James, Wood, Jonathan M., Clarke, Laura, Koren, Sergey, Boitano, Matthew, Peluso, Paul, Li, Heng, Chin, Chen-Shan, Phillippy, Adam M., Durbin, Richard, Wilson, Richard K., Flicek, Paul, Eichler, Evan E., Church, Deanna M.
Pubblicato in Genome Res (2017)

High-resolution comparative analysis of great ape genomes

di Kronenberg, Zev N., Fiddes, Ian T., Gordon, David, Murali, Shwetha, Cantsilieris, Stuart, Meyerson, Olivia S., Underwood, Jason G., Nelson, Bradley J., Chaisson, Mark J.P., Dougherty, Max L., Munson, Katherine M., Hastie, Alex R., Diekhans, Mark, Hormozdiari, Fereydoun, Lorusso, Nicola, Hoekzema, Kendra, Qiu, Ruolan, Clark, Karen, Raja, Archana, Welch, AnneMarie E., Sorensen, Melanie, Baker, Carl, Fulton, Robert S., Armstrong, Joel, Graves-Lindsay, Tina A., Denli, Ahmet M., Hoppe, Emma R., Hsieh, PingHsun, Hill, Christopher M., Pang, Andy Wing Chun, Lee, Joyce, Lam, Ernest T., Dutcher, Susan K., Gage, Fred H., Warren, Wesley C., Shendure, Jay, Haussler, David, Schneider, Valerie A., Cao, Han, Ventura, Mario, Wilson, Richard K., Paten, Benedict, Pollen, Alex, Eichler, Evan E.
Pubblicato in Science (2018)

Telomere-to-telomere assembly of a complete human X chromosome

di Miga, Karen H., Koren, Sergey, Rhie, Arang, Vollger, Mitchell R., Gershman, Ariel, Bzikadze, Andrey, Brooks, Shelise, Howe, Edmund, Porubsky, David, Logsdon, Glennis A., Schneider, Valerie A., Potapova, Tamara, Wood, Jonathan, Chow, William, Armstrong, Joel, Fredrickson, Jeanne, Pak, Evgenia, Tigyi, Kristof, Kremitzki, Milinn, Markovic, Christopher, Maduro, Valerie, Dutra, Amalia, Bouffard, Gerard G., Chang, Alexander M., Hansen, Nancy F., Wilfert, Amy B., Thibaud-Nissen, Françoise, Schmitt, Anthony D., Belton, Jon-Matthew, Selvaraj, Siddarth, Dennis, Megan Y., Soto, Daniela C., Sahasrabudhe, Ruta, Kaya, Gulhan, Quick, Josh, Loman, Nicholas J., Holmes, Nadine, Loose, Matthew, Surti, Urvashi, Risques, Rosa ana, Graves Lindsay, Tina A., Fulton, Robert, Hall, Ira, Paten, Benedict, Howe, Kerstin, Timp, Winston, Young, Alice, Mullikin, James C., Pevzner, Pavel A., Gerton, Jennifer L., Sullivan, Beth A., Eichler, Evan E., Phillippy, Adam M.
Pubblicato in Nature (2020)

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

di 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.
Pubblicato in Science (2020)