Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study...

por Lomas, Oliver C., Gooding, Sarah, Cabes, Maite, Dreau, Helene, Wilson, Edward, Polzella, Paolo, Ramasamy, Karthik, Hamblin, Angela D.
Publicado 2021

Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA

por Cutts, Anthony, Venn, Oliver, Dilthey, Alexander, Gupta, Avinash, Vavoulis, Dimitris, Dreau, Helene, Middleton, Mark, McVean, Gil, Taylor, Jenny C., Schuh, Anna
Publicado 2017

Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer

por Purshouse, Karin, Schuh, Anna, Fairfax, Benjamin P., Knight, Sam, Antoniou, Pavlos, Dreau, Helene, Popitsch, Niko, Gatter, Kevin, Roberts, Ian, Browning, Lisa, Traill, Zoe, Kerr, David, Verrill, Clare, Tuthill, Mark, Taylor, Jenny C., Protheroe, Andrew
Publicado 2017

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

por Roberts, Hannah E., Lopopolo, Maria, Pagnamenta, Alistair T., Sharma, Eshita, Parkes, Duncan, Lonie, Lorne, Freeman, Colin, Knight, Samantha J. L., Lunter, Gerton, Dreau, Helene, Lockstone, Helen, Taylor, Jenny C., Schuh, Anna, Bowden, Rory, Buck, David
Publicado 2021

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

por Schwarze, Katharina, Buchanan, James, Fermont, Jilles M., Dreau, Helene, Tilley, Mark W., Taylor, John M., Antoniou, Pavlos, Knight, Samantha J. L., Camps, Carme, Pentony, Melissa M., Kvikstad, Erika M., Harris, Steve, Popitsch, Niko, Pagnamenta, Alistair T., Schuh, Anna, Taylor, Jenny C., Wordsworth, Sarah
Publicado 2019

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing

por Schuh, Anna, Dreau, Helene, Knight, Samantha J.L., Ridout, Kate, Mizani, Tuba, Vavoulis, Dimitris, Colling, Richard, Antoniou, Pavlos, Kvikstad, Erika M., Pentony, Melissa M., Hamblin, Angela, Protheroe, Andrew, Parton, Marina, Shah, Ketan A., Orosz, Zsolt, Athanasou, Nick, Hassan, Bass, Flanagan, Adrienne M., Ahmed, Ahmed, Winter, Stuart, Harris, Adrian, Tomlinson, Ian, Popitsch, Niko, Church, David, Taylor, Jenny C.
Publicado 2018

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

por Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna
Publicado 2016

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

por Baxley, Ryan M., Leung, Wendy, Schmit, Megan M., Matson, Jacob Peter, Yin, Lulu, Oram, Marissa K., Wang, Liangjun, Taylor, John, Hedberg, Jack, Rogers, Colette B., Harvey, Adam J., Basu, Debashree, Taylor, Jenny C., Pagnamenta, Alistair T., Dreau, Helene, Craft, Jude, Ormondroyd, Elizabeth, Watkins, Hugh, Hendrickson, Eric A., Mace, Emily M., Orange, Jordan S., Aihara, Hideki, Stewart, Grant S., Blair, Edward, Cook, Jeanette Gowen, Bielinsky, Anja-Katrin
Publicado 2021

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency

por Rota, Ioanna A., Handel, Adam E., Maio, Stefano, Klein, Fabian, Dhalla, Fatima, Deadman, Mary E., Cheuk, Stanley, Newman, Joseph A., Michaels, Yale S., Zuklys, Saulius, Prevot, Nicolas, Hublitz, Philip, Charles, Philip D., Gkazi, Athina Soragia, Adamopoulou, Eleni, Qasim, Waseem, Davies, Edward Graham, Hanson, Imelda, Pagnamenta, Alistair T., Camps, Carme, Dreau, Helene M., White, Andrea, James, Kieran, Fischer, Roman, Gileadi, Opher, Taylor, Jenny C., Fulga, Tudor, Lagerholm, B. Christoffer, Anderson, Graham, Sezgin, Erdinc, Holländer, Georg A.
Publicado 2021

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

por Robbe, Pauline, Popitsch, Niko, Knight, Samantha J.L., Antoniou, Pavlos, Becq, Jennifer, He, Miao, Kanapin, Alexander, Samsonova, Anastasia, Vavoulis, Dimitrios V, Ross, Mark T., Kingsbury, Zoya, Cabes, Maite, Ramos, Sara D.C., Page, Suzanne, Dreau, Helene, Ridout, Kate, Jones, Louise J, Tuff-Lacey, Alice, Henderson, Shirley, Mason, Joanne, Buffa, Francesca M, Verrill, Clare, Maldonado-Perez, David, Roxanis, Ioannis, Collantes, Elena, Browning, Lisa, Dhar, Sunanda, Damato, Stephen, Davies, Susan, Caulfield, Mark, Bentley, David R., Taylor, Jenny C., Turnbull, Clare, Schuh, Anna
Publicado 2018

Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

por Robbe, Pauline, Ridout, Kate E., Vavoulis, Dimitrios V., Dréau, Helene, Kinnersley, Ben, Denny, Nicholas, Chubb, Daniel, Appleby, Niamh, Cutts, Anthony, Cornish, Alex J., Lopez-Pascua, Laura, Clifford, Ruth, Burns, Adam, Stamatopoulos, Basile, Cabes, Maite, Alsolami, Reem, Antoniou, Pavlos, Oates, Melanie, Cavalieri, Doriane, Gibson, Jane, Prabhu, Anika V., Schwessinger, Ron, Jennings, Daisy, James, Terena, Maheswari, Uma, Duran-Ferrer, Martí, Carninci, Piero, Knight, Samantha J. L., Månsson, Robert, Hughes, Jim, Davies, James, Ross, Mark, Bentley, David, Strefford, Jonathan C., Devereux, Stephen, Pettitt, Andrew R., Hillmen, Peter, Caulfield, Mark J., Houlston, Richard S., Martín-Subero, José I., Schuh, Anna
Publicado 2022

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

por Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.
Publicado 2023