HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

por Nurk, Sergey, Walenz, Brian P., Rhie, Arang, Vollger, Mitchell R., Logsdon, Glennis A., Grothe, Robert, Miga, Karen H., Eichler, Evan E., Phillippy, Adam M., Koren, Sergey
Publicado 2020

Gaps and complex structurally variant loci in phased genome assemblies

por Porubsky, David, Vollger, Mitchell R., Harvey, William T., Rozanski, Allison N., Ebert, Peter, Hickey, Glenn, Hasenfeld, Patrick, Sanders, Ashley D., Stober, Catherine, Korbel, Jan O., Paten, Benedict, Marschall, Tobias, Eichler, Evan E.
Publicado 2023

Long-read sequence and assembly of segmental duplications

por 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.
Publicado 2018

Fibertools: fast and accurate DNA-m6A calling using single-molecule long-read sequencing

por Jha, Anupama, Bohaczuk, Stephanie C., Mao, Yizi, Ranchalis, Jane, Mallory, Benjamin J., Min, Alan T., Hamm, Morgan O., Swanson, Elliott, Finkbeiner, Connor, Li, Tony, Whittington, Dale, Noble, William Stafford, Stergachis, Andrew B., Vollger, Mitchell R.
Publicado 2023

Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans

por Hsieh, PingHsun, Dang, Vy, Vollger, Mitchell R., Mao, Yafei, Huang, Tzu-Hsueh, Dishuck, Philip C., Baker, Carl, Cantsilieris, Stuart, Lewis, Alexandra P., Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Underwood, Jason G., Eichler, Evan E.
Publicado 2021

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

por Maggiolini, Flavia A. M., Cantsilieris, Stuart, D’Addabbo, Pietro, Manganelli, Michele, Coe, Bradley P., Dumont, Beth L., Sanders, Ashley D., Pang, Andy Wing Chun, Vollger, Mitchell R., Palumbo, Orazio, Palumbo, Pietro, Accadia, Maria, Carella, Massimo, Eichler, Evan E., Antonacci, Francesca
Publicado 2019

Increased mutation and gene conversion within human segmental duplications

por Vollger, Mitchell R., Dishuck, Philip C., Harvey, William T., DeWitt, William S., Guitart, Xavi, Goldberg, Michael E., Rozanski, Allison N., Lucas, Julian, Asri, Mobin, Munson, Katherine M., Lewis, Alexandra P., Hoekzema, Kendra, Logsdon, Glennis A., Porubsky, David, Paten, Benedict, Harris, Kelley, Hsieh, PingHsun, Eichler, Evan E.
Publicado 2023

Characterization of large-scale genomic differences in the first complete human genome

por Yang, Xiangyu, Wang, Xuankai, Zou, Yawen, Zhang, Shilong, Xia, Manying, Fu, Lianting, Vollger, Mitchell R., Chen, Nae-Chyun, Taylor, Dylan J., Harvey, William T., Logsdon, Glennis A., Meng, Dan, Shi, Junfeng, McCoy, Rajiv C., Schatz, Michael C., Li, Weidong, Eichler, Evan E., Lu, Qing, Mao, Yafei
Publicado 2023

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

por Porubsky, David, Ebert, Peter, Audano, Peter A., Vollger, Mitchell R., Harvey, William T., Marijon, Pierre, Ebler, Jana, Munson, Katherine M., Sorensen, Melanie, Sulovari, Arvis, Haukness, Marina, Ghareghani, Maryam, Lansdorp, Peter M., Paten, Benedict, Devine, Scott E., Sanders, Ashley D., Lee, Charles, Chaisson, Mark J. P., Korbel, Jan O., Eichler, Evan E., Marschall, Tobias
Publicado 2020

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

por Shafin, Kishwar, Pesout, Trevor, Lorig-Roach, Ryan, Haukness, Marina, Olsen, Hugh E., Bosworth, Colleen, Armstrong, Joel, Tigyi, Kristof, Maurer, Nicholas, Koren, Sergey, Sedlazeck, Fritz J., Marschall, Tobias, Mayes, Simon, Costa, Vania, Zook, Justin M., Liu, Kelvin J., Kilburn, Duncan, Sorensen, Melanie, Munson, Katy M., Vollger, Mitchell R., Monlong, Jean, Garrison, Erik, Eichler, Evan E., Salama, Sofie, Haussler, David, Green, Richard E., Akeson, Mark, Phillippy, Adam, Miga, Karen H., Carnevali, Paolo, Jain, Miten, Paten, Benedict
Publicado 2020

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

por 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.
Publicado 2021

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

por Vollger, Mitchell R., Korlach, Jonas, Eldred, Kiara C., Swanson, Elliott, Underwood, Jason G., Cheng, Yong-Han H., Ranchalis, Jane, Mao, Yizi, Blue, Elizabeth E., Schwarze, Ulrike, Munson, Katherine M., Saunders, Christopher T., Wenger, Aaron M., Allworth, Aimee, Chanprasert, Sirisak, Duerden, Brittney L., Glass, Ian, Horike-Pyne, Martha, Kim, Michelle, Leppig, Kathleen A., McLaughlin, Ian J., Ogawa, Jessica, Rosenthal, Elisabeth A., Sheppeard, Sam, Sherman, Stephanie M., Strohbehn, Samuel, Yuen, Amy L., Reh, Thomas A., Byers, Peter H., Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Sancak, Yasemin, Dipple, Katrina M., Stergachis, Andrew B.
Publicado 2023

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

por 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.
Publicado 2020

Semi-automated assembly of high-quality diploid human reference genomes

por 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.
Publicado 2022

The complete sequence of a human genome*

por Nurk, Sergey, Koren, Sergey, Rhie, Arang, Rautiainen, Mikko, Bzikadze, Andrey V., Mikheenko, Alla, Vollger, Mitchell R., Altemose, Nicolas, Uralsky, Lev, Gershman, Ariel, Aganezov, Sergey, Hoyt, Savannah J., Diekhans, Mark, Logsdon, Glennis A., Alonge, Michael, Antonarakis, Stylianos E., Borchers, Matthew, Bouffard, Gerard G., Brooks, Shelise Y., Caldas, Gina V., Chen, Nae-Chyun, Cheng, Haoyu, Chin, Chen-Shan, Chow, William, de Lima, Leonardo G., Dishuck, Philip C., Durbin, Richard, Dvorkina, Tatiana, Fiddes, Ian T., Formenti, Giulio, Fulton, Robert S., Fungtammasan, Arkarachai, Garrison, Erik, Grady, Patrick G.S., Graves-Lindsay, Tina A., Hall, Ira M., Hansen, Nancy F., Hartley, Gabrielle A., Haukness, Marina, Howe, Kerstin, Hunkapiller, Michael W., Jain, Chirag, Jain, Miten, Jarvis, Erich D., Kerpedjiev, Peter, Kirsche, Melanie, Kolmogorov, Mikhail, Korlach, Jonas, Kremitzki, Milinn, Li, Heng, Maduro, Valerie V., Marschall, Tobias, McCartney, Ann M., McDaniel, Jennifer, Miller, Danny E., Mullikin, James C., Myers, Eugene W., Olson, Nathan D., Paten, Benedict, Peluso, Paul, Pevzner, Pavel A., Porubsky, David, Potapova, Tamara, Rogaev, Evgeny I., Rosenfeld, Jeffrey A., Salzberg, Steven L., Schneider, Valerie A., Sedlazeck, Fritz J., Shafin, Kishwar, Shew, Colin J., Shumate, Alaina, Sims, Ying, Smit, Arian F. A., Soto, Daniela C., Sović, Ivan, Storer, Jessica M., Streets, Aaron, Sullivan, Beth A., Thibaud-Nissen, Françoise, Torrance, James, Wagner, Justin, Walenz, Brian P., Wenger, Aaron, Wood, Jonathan M. D., Xiao, Chunlin, Yan, Stephanie M., Young, Alice C., Zarate, Samantha, Surti, Urvashi, McCoy, Rajiv C., Dennis, Megan Y., Alexandrov, Ivan A., Gerton, Jennifer L., O’Neill, Rachel J., Timp, Winston, Zook, Justin M., Schatz, Michael C., Eichler, Evan E., Miga, Karen H., Phillippy, Adam M.
Publicado 2022

A draft human pangenome reference

por Liao, Wen-Wei, Asri, Mobin, Ebler, Jana, Doerr, Daniel, Haukness, Marina, Hickey, Glenn, Lu, Shuangjia, Lucas, Julian K., Monlong, Jean, Abel, Haley J., Buonaiuto, Silvia, Chang, Xian H., Cheng, Haoyu, Chu, Justin, Colonna, Vincenza, Eizenga, Jordan M., Feng, Xiaowen, Fischer, Christian, Fulton, Robert S., Garg, Shilpa, Groza, Cristian, Guarracino, Andrea, Harvey, William T., Heumos, Simon, Howe, Kerstin, Jain, Miten, Lu, Tsung-Yu, Markello, Charles, Martin, Fergal J., Mitchell, Matthew W., Munson, Katherine M., Mwaniki, Moses Njagi, Novak, Adam M., Olsen, Hugh E., Pesout, Trevor, Porubsky, David, Prins, Pjotr, Sibbesen, Jonas A., Sirén, Jouni, Tomlinson, Chad, Villani, Flavia, Vollger, Mitchell R., Antonacci-Fulton, Lucinda L., Baid, Gunjan, Baker, Carl A., Belyaeva, Anastasiya, Billis, Konstantinos, Carroll, Andrew, Chang, Pi-Chuan, Cody, Sarah, Cook, Daniel E., Cook-Deegan, Robert M., Cornejo, Omar E., Diekhans, Mark, Ebert, Peter, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L., Formenti, Giulio, Frankish, Adam, Gao, Yan, Garrison, Nanibaa’ A., Giron, Carlos Garcia, Green, Richard E., Haggerty, Leanne, Hoekzema, Kendra, Hourlier, Thibaut, Ji, Hanlee P., Kenny, Eimear E., Koenig, Barbara A., Kolesnikov, Alexey, Korbel, Jan O., Kordosky, Jennifer, Koren, Sergey, Lee, HoJoon, Lewis, Alexandra P., Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, McCartney, Ann, McDaniel, Jennifer, Mountcastle, Jacquelyn, Nattestad, Maria, Nurk, Sergey, Olson, Nathan D., Popejoy, Alice B., Puiu, Daniela, Rautiainen, Mikko, Regier, Allison A., Rhie, Arang, Sacco, Samuel, Sanders, Ashley D., Schneider, Valerie A., Schultz, Baergen I., Shafin, Kishwar, Smith, Michael W., Sofia, Heidi J., Abou Tayoun, Ahmad N., Thibaud-Nissen, Françoise, Tricomi, Francesca Floriana, Wagner, Justin, Walenz, Brian, Wood, Jonathan M. D., Zimin, Aleksey V., Bourque, Guillaume, Chaisson, Mark J. P., Flicek, Paul, Phillippy, Adam M., Zook, Justin M., Eichler, Evan E., Haussler, David, Wang, Ting, Jarvis, Erich D., Miga, Karen H., Garrison, Erik, Marschall, Tobias, Hall, Ira M., Li, Heng, Paten, Benedict
Publicado 2023