Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
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
Published in Nature biotechnology (01.09.2020)
Published in Nature biotechnology (01.09.2020)
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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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Journal Article
Characterizing the Major Structural Variant Alleles of the Human Genome
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.
Published in Cell (24.01.2019)
Published in Cell (24.01.2019)
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Journal Article
High-resolution comparative analysis of great ape genomes
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
Published in Science (American Association for the Advancement of Science) (08.06.2018)
Published in Science (American Association for the Advancement of Science) (08.06.2018)
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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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Journal Article
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans
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.
Published in Nature communications (25.08.2021)
Published in Nature communications (25.08.2021)
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Journal Article
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family
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.
Published in Proceedings of the National Academy of Sciences - PNAS (08.05.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (08.05.2018)
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Journal Article
An evolutionary driver of interspersed segmental duplications in primates
Cantsilieris, Stuart, Sunkin, Susan M, Johnson, Matthew E, Anaclerio, Fabio, Huddleston, John, Baker, Carl, Dougherty, Max L, Underwood, Jason G, Sulovari, Arvis, Hsieh, PingHsun, Mao, Yafei, Catacchio, Claudia Rita, Malig, Maika, Welch, AnneMarie E, Sorensen, Melanie, Munson, Katherine M, Jiang, Weihong, Girirajan, Santhosh, Ventura, Mario, Lamb, Bruce T, Conlon, Ronald A, Eichler, Evan E
Published in Genome Biology (10.08.2020)
Published in Genome Biology (10.08.2020)
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Journal Article
Long-read sequence and assembly of segmental duplications
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.
Published in Nature methods (01.01.2019)
Published in Nature methods (01.01.2019)
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Journal Article
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads
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
Published in Nature biotechnology (01.03.2021)
Published in Nature biotechnology (01.03.2021)
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Microbial and geochemical controls on waste rock weathering and drainage quality
Blackmore, Sharon, Vriens, Bas, Sorensen, Melanie, Power, Ian M., Smith, Leslie, Hallam, Steven J., Mayer, K. Ulrich, Beckie, Roger D.
Published in The Science of the total environment (01.11.2018)
Published in The Science of the total environment (01.11.2018)
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Journal Article
Recurrent inversion toggling and great ape genome evolution
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.
Published in Nature genetics (01.08.2020)
Published in Nature genetics (01.08.2020)
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A high-quality bonobo genome refines the analysis of hominid evolution
Mao, Yafei, Catacchio, Claudia R., Hillier, LaDeana W., Porubsky, David, Li, Ruiyang, Sulovari, Arvis, Fernandes, Jason D., Montinaro, Francesco, Gordon, David S., Storer, Jessica M., Haukness, Marina, Fiddes, Ian T., Murali, Shwetha Canchi, Dishuck, Philip C., Hsieh, PingHsun, Harvey, William T., Audano, Peter A., Mercuri, Ludovica, Piccolo, Ilaria, Antonacci, Francesca, Munson, Katherine M., Lewis, Alexandra P., Baker, Carl, Underwood, Jason G., Hoekzema, Kendra, Huang, Tzu-Hsueh, Sorensen, Melanie, Walker, Jerilyn A., Hoffman, Jinna, Thibaud-Nissen, Françoise, Salama, Sofie R., Pang, Andy W. C., Lee, Joyce, Hastie, Alex R., Paten, Benedict, Batzer, Mark A., Diekhans, Mark, Ventura, Mario, Eichler, Evan E.
Published in Nature (London) (03.06.2021)
Published in Nature (London) (03.06.2021)
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Vam6/Vps39/TRAP1‐domain proteins influence vacuolar morphology, iron acquisition and virulence in Cryptococcus neoformans
Hu, Guanggan, Bakkeren, Erik, Caza, Mélissa, Horianopoulos, Linda, Sánchez‐León, Eddy, Sorensen, Melanie, Jung, Wonhee, Kronstad, James W.
Published in Cellular microbiology (01.12.2021)
Published in Cellular microbiology (01.12.2021)
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Barriers and facilitators to national guideline implementation for palliative cancer care in a Danish cross‐sectoral healthcare setting: A qualitative study of healthcare professionals' experiences
Sørensen, Dina Melanie, Dalton, Susanne Oksbjerg, Egholm, Cecilie Lindström, Bidstrup, Pernille, Brodersen, John Brandt, Rosted, Elizabeth
Published in Psycho-oncology (Chichester, England) (01.01.2024)
Published in Psycho-oncology (Chichester, England) (01.01.2024)
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Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates
Maggiolini, Flavia Angela Maria, Mercuri, Ludovica, Antonacci, Francesca, Anaclerio, Fabio, Calabrese, Francesco Maria, Lorusso, Nicola, L'Abbate, Alberto, Sorensen, Melanie, Giannuzzi, Giuliana, Eichler, Evan E, Catacchio, Claudia Rita, Ventura, Mario
Published in Genes (18.02.2020)
Published in Genes (18.02.2020)
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Patients’ experiences of the COVID-19 pandemic and the change to telephone consultations in cancer care
Bødtcher, Hanne, Lindblad, Katrine Vammen, Sørensen, Dina Melanie, Rosted, Elizabeth, Kjeldsted, Eva, Christensen, Helle Gert, Svendsen, Mads Nordahl, Thomsen, Linda Aagaard, Dalton, Susanne Oksbjerg
Published in Supportive care in cancer (01.12.2022)
Published in Supportive care in cancer (01.12.2022)
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Patient-Related Characteristics Associated with Treatment Modifications and Suboptimal Relative Dose Intensity of Neoadjuvant Chemotherapy in Patients with Breast Cancer-A Retrospective Study
Kjeldsted, Eva, Gehl, Julie, Sørensen, Dina Melanie, Lodin, Alexey, Ceballos, Silvia Gonzalez, Dalton, Susanne Oksbjerg
Published in Cancers (26.04.2023)
Published in Cancers (26.04.2023)
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Journal Article
A population-based survey of patients' experiences with teleconsultations in cancer care in Denmark during the COVID-19 pandemic
Kjeldsted, Eva, Lindblad, Katrine Vammen, Bødtcher, Hanne, Sørensen, Dina Melanie, Rosted, Elizabeth, Christensen, Helle Gert, Svendsen, Mads Nordahl, Thomsen, Linda Aagaard, Dalton, Susanne Oksbjerg
Published in Acta oncologica (03.10.2021)
Published in Acta oncologica (03.10.2021)
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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, Porubsky, David, 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 bioRxiv (08.09.2020)
Published in bioRxiv (08.09.2020)
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