Inversion polymorphism in a complete human genome assembly
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
Published in Genome Biology (30.04.2023)
Published in Genome Biology (30.04.2023)
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Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C
Kronenberg, Zev N, Rhie, Arang, Koren, Sergey, Concepcion, Gregory T, Peluso, Paul, Munson, Katherine M, Porubsky, David, Kuhn, Kristen, Mueller, Kathryn A, Low, Wai Yee, Hiendleder, Stefan, Fedrigo, Olivier, Liachko, Ivan, Hall, Richard J, Phillippy, Adam M, Eichler, Evan E, Williams, John L, Smith, Timothy P L, Jarvis, Erich D, Sullivan, Shawn T, Kingan, Sarah B
Published in Nature communications (28.04.2021)
Published in Nature communications (28.04.2021)
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Dense and accurate whole-chromosome haplotyping of individual genomes
Porubsky, David, Garg, Shilpa, Sanders, Ashley D, Korbel, Jan O, Guryev, Victor, Lansdorp, Peter M, Marschall, Tobias
Published in Nature communications (03.11.2017)
Published in Nature communications (03.11.2017)
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Journal Article
Gaps and complex structurally variant loci in phased genome assemblies
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
Published in Genome research (01.04.2023)
Published in Genome research (01.04.2023)
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Journal Article
Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads
Vollger, Mitchell R., Logsdon, Glennis A., Audano, Peter A., Sulovari, Arvis, Porubsky, David, Peluso, Paul, Wenger, Aaron M., Concepcion, Gregory T., Kronenberg, Zev N., Munson, Katherine M., Baker, Carl, Sanders, Ashley D., Spierings, Diana C.J., Lansdorp, Peter M., Surti, Urvashi, Hunkapiller, Michael W., Eichler, Evan E.
Published in Annals of human genetics (01.03.2020)
Published in Annals of human genetics (01.03.2020)
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Journal Article
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
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
Published in Science (American Association for the Advancement of Science) (18.10.2019)
Published in Science (American Association for the Advancement of Science) (18.10.2019)
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The Developmental Potential of iPSCs Is Greatly Influenced by Reprogramming Factor Selection
Buganim, Yosef, Markoulaki, Styliani, van Wietmarschen, Niek, Hoke, Heather, Wu, Tao, Ganz, Kibibi, Akhtar-Zaidi, Batool, He, Yupeng, Abraham, Brian J., Porubsky, David, Kulenkampff, Elisabeth, Faddah, Dina A., Shi, Linyu, Gao, Qing, Sarkar, Sovan, Cohen, Malkiel, Goldmann, Johanna, Nery, Joseph R., Schultz, Matthew D., Ecker, Joseph R., Xiao, Andrew, Young, Richard A., Lansdorp, Peter M., Jaenisch, Rudolf
Published in Cell stem cell (04.09.2014)
Published in Cell stem cell (04.09.2014)
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Sister chromatid exchanges induced by perturbed replication can form independently of BRCA1, BRCA2 and RAD51
Heijink, Anne Margriet, Stok, Colin, Porubsky, David, Manolika, Eleni Maria, de Kanter, Jurrian K, Kok, Yannick P, Everts, Marieke, de Boer, H Rudolf, Audrey, Anastasia, Bakker, Femke J, Wierenga, Elles, Tijsterman, Marcel, Guryev, Victor, Spierings, Diana C J, Knipscheer, Puck, van Boxtel, Ruben, Ray Chaudhuri, Arnab, Lansdorp, Peter M, van Vugt, Marcel A T M
Published in Nature communications (07.11.2022)
Published in Nature communications (07.11.2022)
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Journal Article
Direct chromosome-length haplotyping by single-cell sequencing
Porubský, David, Sanders, Ashley D, van Wietmarschen, Niek, Falconer, Ester, Hills, Mark, Spierings, Diana C J, Bevova, Marianna R, Guryev, Victor, Lansdorp, Peter M
Published in Genome research (01.11.2016)
Published in Genome research (01.11.2016)
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Journal Article
Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus
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
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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Spectrum of mutations in gastrointestinal stromal tumor patients - a population-based study from Slovakia
Minárik, Gabriel, Plank, Lukáš, Lasabová, Zora, Szemes, Tomáš, Burjanivová, Tatiana, Szépe, Peter, Buzalková, Veronika, Porubský, David, Šufliarsky, Jozef
Published in APMIS : acta pathologica, microbiologica et immunologica Scandinavica (01.06.2013)
Published in APMIS : acta pathologica, microbiologica et immunologica Scandinavica (01.06.2013)
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Journal Article
Characterizing polymorphic inversions in human genomes by single-cell sequencing
Sanders, Ashley D, Hills, Mark, Porubský, David, Guryev, Victor, Falconer, Ester, Lansdorp, Peter M
Published in Genome research (01.11.2016)
Published in Genome research (01.11.2016)
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Journal Article
Single-cell whole genome sequencing reveals no evidence for common aneuploidy in normal and Alzheimer's disease neurons
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
Published in Genome Biology (31.05.2016)
Published in Genome Biology (31.05.2016)
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Journal Article
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
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
Published in Genome research (01.11.2020)
Published in Genome research (01.11.2020)
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Journal Article
Telomere-to-telomere assembly of diploid chromosomes with Verkko
Rautiainen, Mikko, Nurk, Sergey, Walenz, Brian P, Logsdon, Glennis A, Porubsky, David, Rhie, Arang, Eichler, Evan E, Phillippy, Adam M, Koren, Sergey
Published in Nature biotechnology (01.10.2023)
Published in Nature biotechnology (01.10.2023)
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Journal Article
Segmental duplications and their variation in a complete human genome
Vollger, Mitchell R, Guitart, Xavi, Dishuck, Philip C, Mercuri, Ludovica, Harvey, William T, Gershman, Ariel, Diekhans, Mark, Sulovari, Arvis, Munson, Katherine M, Lewis, Alexandra P, Hoekzema, Kendra, Porubsky, David, Li, Ruiyang, Nurk, Sergey, Koren, Sergey, Miga, Karen H, Phillippy, Adam M, Timp, Winston, Ventura, Mario, Eichler, Evan E
Published in Science (American Association for the Advancement of Science) (01.04.2022)
Published in Science (American Association for the Advancement of Science) (01.04.2022)
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Journal Article
The structure, function and evolution of a complete human chromosome 8
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
Published in Nature (London) (06.05.2021)
Published in Nature (London) (06.05.2021)
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