Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints

por Schwessinger, Ron, Suciu, Maria C., McGowan, Simon J., Telenius, Jelena, Taylor, Stephen, Higgs, Doug R., Hughes, Jim R.
Publicado 2017

DeepC: predicting 3D genome folding using megabase-scale transfer learning

por Schwessinger, Ron, Gosden, Matthew, Downes, Damien, Brown, Richard C, Oudelaar, A. Marieke, Telenius, Jelena, Teh, Yee Whye, Lunter, Gerton, Hughes, Jim R.
Publicado 2020

The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin

por Truch, Julia, Downes, Damien J., Scott, Caroline, Gür, E. Ravza, Telenius, Jelena M., Repapi, Emmanouela, Schwessinger, Ron, Gosden, Matthew, Brown, Jill M., Taylor, Stephen, Cheong, Pak Leng, Hughes, Jim R., Higgs, Douglas R., Gibbons, Richard J.
Publicado 2022

Dynamic Runx1 chromatin boundaries affect gene expression in hematopoietic development

por Owens, Dominic D. G., Anselmi, Giorgio, Oudelaar, A. Marieke, Downes, Damien J., Cavallo, Alessandro, Harman, Joe R., Schwessinger, Ron, Bucakci, Akin, Greder, Lucas, de Ornellas, Sara, Jeziorska, Danuta, Telenius, Jelena, Hughes, Jim R., de Bruijn, Marella F. T. R.
Publicado 2022

Direct correction of haemoglobin E β-thalassaemia using base editors

por Badat, Mohsin, Ejaz, Ayesha, Hua, Peng, Rice, Siobhan, Zhang, Weijiao, Hentges, Lance D., Fisher, Christopher A., Denny, Nicholas, Schwessinger, Ron, Yasara, Nirmani, Roy, Noemi B. A., Issa, Fadi, Roy, Andi, Telfer, Paul, Hughes, Jim, Mettananda, Sachith, Higgs, Douglas R., Davies, James O. J.
Publicado 2023

Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains

por Oudelaar, A. Marieke, Davies, James O.J., Hanssen, Lars L.P., Telenius, Jelena M., Schwessinger, Ron, Liu, Yu, Brown, Jill M., Downes, Damien J., Chiariello, Andrea M., Bianco, Simona, Nicodemi, Mario, Buckle, Veronica J., Dekker, Job, Higgs, Douglas R., Hughes, Jim R.
Publicado 2018

High-resolution targeted 3C interrogation of cis-regulatory element organization at genome-wide scale

por Downes, Damien J., Beagrie, Robert A., Gosden, Matthew E., Telenius, Jelena, Carpenter, Stephanie J., Nussbaum, Lea, De Ornellas, Sara, Sergeant, Martin, Eijsbouts, Chris Q., Schwessinger, Ron, Kerry, Jon, Roberts, Nigel, Shivalingam, Arun, El-Sagheer, Afaf, Oudelaar, A. Marieke, Brown, Tom, Buckle, Veronica J., Davies, James O. J., Hughes, Jim R.
Publicado 2021

Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus

por Downes, Damien J., Cross, Amy R., Hua, Peng, Roberts, Nigel, Schwessinger, Ron, Cutler, Antony J., Munis, Altar M., Brown, Jill, Mielczarek, Olga, de Andrea, Carlos E., Melero, Ignacio, Gill, Deborah R., Hyde, Stephen C., Knight, Julian C., Todd, John A., Sansom, Stephen N., Issa, Fadi, Davies, James O.J., Hughes, Jim R.
Publicado 2021

Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

por Scott, Caroline, Downes, Damien J., Brown, Jill M., Beagrie, Robert A., Olijnik, Aude-Anais, Gosden, Matthew, Schwessinger, Ron, Fisher, Christopher A., Rose, Anna, Ferguson, David J.P, Johnson, Errin, Hill, Quentin A., Okoli, Steven, Renella, Raffaele, Ryan, Kate, Brand, Marjorie, Hughes, Jim, Roy, Noemi B.A., Higgs, Douglas R., Babbs, Christian, Buckle, Veronica J.
Publicado 2020

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