Characterizing polymorphic inversions in human genomes by single-cell sequencing

por Sanders, Ashley D., Hills, Mark, Porubský, David, Guryev, Victor, Falconer, Ester, Lansdorp, Peter M.
Publicado 2016

GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads

por Dishuck, Philip C, Rozanski, Allison N, Logsdon, Glennis A, Porubsky, David, Eichler, Evan E
Publicado 2022

Dense and accurate whole-chromosome haplotyping of individual genomes

por Porubsky, David, Garg, Shilpa, Sanders, Ashley D., Korbel, Jan O., Guryev, Victor, Lansdorp, Peter M., Marschall, Tobias
Publicado 2017

Strand-seq enables reliable separation of long reads by chromosome via expectation maximization

por Ghareghani, Maryam, Porubskỳ, David, Sanders, Ashley D, Meiers, Sascha, Eichler, Evan E, Korbel, Jan O, Marschall, Tobias
Publicado 2018

Genome-wide mapping of sister chromatid exchange events in single yeast cells using Strand-seq

por Claussin, Clémence, Porubský, David, Spierings, Diana CJ, Halsema, Nancy, Rentas, Stefan, Guryev, Victor, Lansdorp, Peter M, Chang, Michael
Publicado 2017

Direct chromosome-length haplotyping by single-cell sequencing

por Porubský, David, Sanders, Ashley D., van Wietmarschen, Niek, Falconer, Ester, Hills, Mark, Spierings, Diana C.J., Bevova, Marianna R., Guryev, Victor, Lansdorp, Peter M.
Publicado 2016

Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus

por Paparella, Annalisa, L’Abbate, Alberto, Palmisano, Donato, Chirico, Gerardina, Porubsky, David, Catacchio, Claudia R., Ventura, Mario, Eichler, Evan E., Maggiolini, Flavia A. M., Antonacci, Francesca
Publicado 2023

Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall

por Harvey, William T., Ebert, Peter, Ebler, Jana, Audano, Peter A., Munson, Katherine M., Hoekzema, Kendra, Porubsky, David, Beck, Christine R., Marschall, Tobias, Garimella, Kiran, Eichler, Evan E.
Publicado 2023

Inversion polymorphism in a complete human genome assembly

por Porubsky, David, Harvey, William T., Rozanski, Allison N., Ebler, Jana, Höps, Wolfram, Ashraf, Hufsah, Hasenfeld, Patrick, Paten, Benedict, Sanders, Ashley D., Marschall, Tobias, Korbel, Jan O., Eichler, Evan E.
Publicado 2023

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

Recurrent inversion toggling and great ape genome evolution

por Porubsky, David, Sanders, Ashley D., Höps, Wolfram, Hsieh, PingHsun, Sulovari, Arvis, Li, Ruiyang, Mercuri, Ludovica, Sorensen, Melanie, Murali, Shwetha C., Gordon, David, Cantsilieris, Stuart, Pollen, Alex A., Ventura, Mario, Antonacci, Francesca, Marschall, Tobias, Korbel, Jan O., Eichler, Evan E.
Publicado 2020

The variation and evolution of complete human centromeres

por Logsdon, Glennis A., Rozanski, Allison N., Ryabov, Fedor, Potapova, Tamara, Shepelev, Valery A., Mao, Yafei, Rautiainen, Mikko, Koren, Sergey, Nurk, Sergey, Porubsky, David, Lucas, Julian K., Hoekzema, Kendra, Munson, Katherine M., Gerton, Jennifer L., Phillippy, Adam M., Alexandrov, Ivan A., Eichler, Evan E.
Publicado 2023

Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution

por Maggiolini, Flavia Angela Maria, Sanders, Ashley D., Shew, Colin James, Sulovari, Arvis, Mao, Yafei, Puig, Marta, Catacchio, Claudia Rita, Dellino, Maria, Palmisano, Donato, Mercuri, Ludovica, Bitonto, Miriana, Porubský, David, Cáceres, Mario, Eichler, Evan E., Ventura, Mario, Dennis, Megan Y., Korbel, Jan O., Antonacci, Francesca
Publicado 2020

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

Single-cell whole genome sequencing reveals no evidence for common aneuploidy in normal and Alzheimer’s disease neurons

por van den Bos, Hilda, Spierings, Diana C. J., Taudt, Aaron S., Bakker, Bjorn, Porubský, David, Falconer, Ester, Novoa, Carolina, Halsema, Nancy, Kazemier, Hinke G., Hoekstra-Wakker, Karina, Guryev, Victor, den Dunnen, Wilfred F. A., Foijer, Floris, Tatché, Maria Colomé, Boddeke, Hendrikus W. G. M., Lansdorp, Peter M.
Publicado 2016

Single-cell sequencing reveals karyotype heterogeneity in murine and human malignancies

por Bakker, Bjorn, Taudt, Aaron, Belderbos, Mirjam E., Porubsky, David, Spierings, Diana C. J., de Jong, Tristan V., Halsema, Nancy, Kazemier, Hinke G., Hoekstra-Wakker, Karina, Bradley, Allan, de Bont, Eveline S. J. M., van den Berg, Anke, Guryev, Victor, Lansdorp, Peter M., Colomé-Tatché, Maria, Foijer, Floris
Publicado 2016

Erratum to: Single-cell whole genome sequencing reveals no evidence for common aneuploidy in normal and Alzheimer’s disease neurons

por van den Bos, Hilda, Spierings, Diana C. J., Taudt, Aaron, Bakker, Bjorn, Porubský, David, Falconer, Ester, Novoa, Carolina, Halsema, Nancy, Kazemier, Hinke G., Hoekstra-Wakker, Karina, Guryev, Victor, den Dunnen, Wilfred F. A., Foijer, Floris, Colomé-Tatché, Maria, Boddeke, Hendrikus W. G. M., Landsdorp, Peter M.
Publicado 2016

Functional analysis of structural variants in single cells using Strand-seq

por Jeong, Hyobin, Grimes, Karen, Rauwolf, Kerstin K., Bruch, Peter-Martin, Rausch, Tobias, Hasenfeld, Patrick, Benito, Eva, Roider, Tobias, Sabarinathan, Radhakrishnan, Porubsky, David, Herbst, Sophie A., Erarslan-Uysal, Büşra, Jann, Johann-Christoph, Marschall, Tobias, Nowak, Daniel, Bourquin, Jean-Pierre, Kulozik, Andreas E., Dietrich, Sascha, Bornhauser, Beat, Sanders, Ashley D., Korbel, Jan O.
Publicado 2022

Phased nanopore assembly with Shasta and modular graph phasing with GFAse

por Lorig-Roach, Ryan, Meredith, Melissa, Monlong, Jean, Jain, Miten, Olsen, Hugh, McNulty, Brandy, Porubsky, David, Montague, Tessa, Lucas, Julian, Condon, Chris, Eizenga, Jordan, Juul, Sissel, McKenzie, Sean, Simmonds, Sara E., Park, Jimin, Asri, Mobin, Koren, Sergey, Eichler, Evan, Axel, Richard, Martin, Bruce, Carnevali, Paolo, Miga, Karen, Paten, Benedict
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