Bridging genomics’ greatest challenge: The diversity gap

Manuel Corpas, Mkpouto Pius, Marie Poburennaya, Heinner Guio, Miriam Dwek, Shivashankar Nagaraj, Catalina Lopez-Correa, Alice Popejoy and Segun Fatumo 2025. Bridging genomics’ greatest challenge: The diversity gap. Cell genomics. 5 (1) 100724. https://doi.org/10.1016/j.xgen.2024.100724

TitleBridging genomics’ greatest challenge: The diversity gap
TypeJournal article
AuthorsManuel Corpas, Mkpouto Pius, Marie Poburennaya, Heinner Guio, Miriam Dwek, Shivashankar Nagaraj, Catalina Lopez-Correa, Alice Popejoy and Segun Fatumo
Abstract

Achieving diverse representation in biomedical data is critical for healthcare equity. Failure to do so perpetuates health disparities and exacerbates biases that may harm patients with underrepresented ancestral backgrounds. We present a quantitative assessment of representation in datasets used across human genomics, including genome-wide association studies (GWASs), pharmacogenomics, clinical trials, and direct-to-consumer (DTC) genetic testing. We suggest that relative proportions of ancestries represented in datasets, compared to the global census population, provide insufficient representation of global ancestral genetic diversity. Some populations have greater proportional representation in data relative to their population size and the genomic diversity present in their ancestral haplotypes. As insights from genomics become increasingly integrated into evidence-based medicine, strategic inclusion and effective mechanisms to ensure representation of global genomic diversity in datasets are imperative.

Article number100724
JournalCell genomics
Journal citation5 (1)
ISSN2666-979X
Year2025
PublisherElsevier
Publisher's version
License
CC BY 4.0
File Access Level
Open (open metadata and files)
Digital Object Identifier (DOI)https://doi.org/10.1016/j.xgen.2024.100724
Web address (URL)https://doi.org/10.1016/j.xgen.2024.100724
Publication dates
Published online12 Dec 2024
Published in print2025

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Manuel Corpas, Karyn Megy, Antonio Metastasio and Edmund Lehmann 2022. Implementation of individualised polygenic risk score analysis: a test case of a family of four. BMC Medical Genomics. 15 (Supplement 3) 207. https://doi.org/10.1186/s12920-022-01331-8

Incorporating progesterone receptor expression into the PREDICT breast prognostic model.
Grootes, Isabelle, Keeman, Renske, Blows, Fiona M, Milne, Roger L, Giles, Graham G, Swerdlow, Anthony J, Fasching, Peter A, Abubakar, Mustapha, Andrulis, Irene L, Anton-Culver, Hoda, Beckmann, Matthias W, Blomqvist, Carl, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Briceno, Ignacio, Burwinkel, Barbara, Camp, Nicola J, Castelao, Jose E, Choi, Ji-Yeob, Clarke, Christine L, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Dunning, Alison M, Dwek, Miriam, Easton, Douglas F, Eccles, Diana M, Eriksson, Mikael, Ernst, Kristina, Evans, D Gareth, Figueroa, Jonine D, Fink, Visnja, Floris, Giuseppe, Fox, Stephen, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Sáenz, José A, González-Neira, Anna, Haeberle, Lothar, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hartman, Mikael, Hein, Alexander, Hooning, Maartje J, Hou, Ming-Feng, Howell, Sacha J, ABCTB Investigators, kConFab Investigators, Ito, Hidemi, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey, Kang, Daehee, Kristensen, Vessela N, Kwong, Ava, Lambrechts, Diether, Li, Jingmei, Lubiński, Jan, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Taib, Nur Aishah Mohd, Mulligan, Anna Marie, Nevanlinna, Heli, Newman, William G, Offit, Kenneth, Osorio, Ana, Park, Sue K, Park-Simon, Tjoung-Won, Patel, Alpa V, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rennert, Gad, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J, Schneeweiss, Andreas, Schochter, Fabienne, Schoemaker, Minouk J, Shen, Chen-Yang, Shibli, Rana, Sinn, Peter, Tapper, William J, Tawfiq, Essa, Teo, Soo Hwang, Teras, Lauren R, Torres, Diana, Vachon, Celine M, van Deurzen, Carolien H M, Wendt, Camilla, Williams, Justin A, Winqvist, Robert, Elwood, Mark, Schmidt, Marjanka K, García-Closas, Montserrat and Pharoah, Paul D P 2022. Incorporating progesterone receptor expression into the PREDICT breast prognostic model. European journal of cancer (Oxford, England : 1990). 173, pp. 178-193. https://doi.org/S0959-8049(22)00362-8

Development and Optimization of a Machine-Learning Prediction Model for Acute Desquamation After Breast Radiation Therapy in the Multicenter REQUITE Cohort.
Aldraimli, Mahmoud, Osman, Sarah, Grishchuck, Diana, Ingram, Samuel, Lyon, Robert, Mistry, Anil, Oliveira, Jorge, Samuel, Robert, Shelley, Leila E A, Soria, Daniele, Dwek, Miriam V, Aguado-Barrera, Miguel E, Azria, David, Chang-Claude, Jenny, Dunning, Alison, Giraldo, Alexandra, Green, Sheryl, Gutiérrez-Enríquez, Sara, Herskind, Carsten, van Hulle, Hans, Lambrecht, Maarten, Lozza, Laura, Rancati, Tiziana, Reyes, Victoria, Rosenstein, Barry S, de Ruysscher, Dirk, de Santis, Maria C, Seibold, Petra, Sperk, Elena, Symonds, R Paul, Stobart, Hilary, Taboada-Valadares, Begoña, Talbot, Christopher J, Vakaet, Vincent J L, Vega, Ana, Veldeman, Liv, Veldwijk, Marlon R, Webb, Adam, Weltens, Caroline, West, Catharine M, Chaussalet, Thierry J, Rattay, Tim and REQUITE consortium 2022. Development and Optimization of a Machine-Learning Prediction Model for Acute Desquamation After Breast Radiation Therapy in the Multicenter REQUITE Cohort. Advances in radiation oncology. 7 (3) 100890. https://doi.org/10.1016/j.adro.2021.100890

Transferability of genetic risk scores in African populations
Abram B. Kamiza, Sounkou M. Toure, Marijana Vujkovic, Tafadzwa Machipisa, Opeyemi S. Soremekun, Christopher Kintu, Manuel Corpas, Fraser Pirie, Elizabeth Young, Dipender Gill, Manjinder S. Sandhu, Pontiano Kaleebu, Moffat Nyirenda, Ayesha A. Motala, Tinashe Chikowore and Segun Fatumo 2022. Transferability of genetic risk scores in African populations. Nature Medicine. https://doi.org/10.1038/s41591-022-01835-x

Common variants in breast cancer risk loci predispose to distinct tumor subtypes.
Ahearn, T., Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Lush, Michael, Wang, Qin, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, T., Dwek, Miriam, Eccles, Diana M, Evans, D., Fasching, Peter A, Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, Alnæs, Grethe I Grenaker, Grip, Mervi, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette A M, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N, Krüger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W, Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G, Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, McLean, Catriona, Meindl, Alfons, Menon, Usha, Nevanlinna, Heli, Newman, William G, Nodora, Jesse, Offit, Kenneth, Olsson, Håkan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa V, Peto, Julian, Pita, Guillermo, Plaseska-Karanfilska, Dijana, Prentice, Ross, Punie, Kevin, Pylkäs, Katri, Radice, Paolo, Rennert, Gad, Romero, A., Rüdiger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P, Sawyer, Elinor J, Schmutzler, Rita K, Schoemaker, M., Schöttker, Ben, Sherman, Mark E, Shu, Xiao-Ou, Smichkoska, Snezhana, Southey, Melissa C, Spinelli, John J, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Teras, Lauren R, Terry, Mary Beth, Torres, Diana, Troester, Melissa A, Vachon, Celine M, van Deurzen, Carolien H M, van Veen, Elke M, Wagner, Philippe, Weinberg, Clarice R, Wendt, Camilla, Wesseling, Jelle, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Zheng, Wei, Couch, Fergus J, Simard, Jacques, Kraft, Peter, Easton, Douglas F, Pharoah, Paul D P, Schmidt, Marjanka K, Garcia-Closas, M. and Chatterjee, Nilanjan 2022. Common variants in breast cancer risk loci predispose to distinct tumor subtypes. Breast Cancer Research. 24 2. https://doi.org/10.1186/s13058-021-01484-x

Editorial: Personal Genomes: Accessing, Sharing, and Interpretation
Corpas, Manuel, Beck, Stephan, Glusman, Gustavo and Shabani, Mahsa 2021. Editorial: Personal Genomes: Accessing, Sharing, and Interpretation. Frontiers in Genetics. 12 687584. https://doi.org/10.3389/fgene.2021.687584

Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium
Morra, Anna, Jung, Audrey Y., Behrens, S., Keeman, R., Ahearn, T., Anton-Culver, Hoda, Arndt, V., Augustinsson, A., Auvinen, Päivi K., Beane Freeman, Laura E., Becher, Heiko, Beckmann, Matthias W., Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Brenner, H., Briceno, Ignacio, Brucker, Sara Y., Camp, N., Campa, Daniele, Canzian, F., Castelao, Jose E., Chanock, Stephen J., Choi, Ji-Yeob, Clarke, Christine L., Couch, Fergus J., Cox, A., Cross, Simon S., Czene, Kamila, Dörk, Thilo, Dunning, A., Dwek, Miriam, Easton, Douglas F., Eccles, Diana M., Egan, Kathleen M., Evans, D., Fasching, P., Flyger, Henrik, Gago-Dominguez, M., Gapstur, Susan M., Garcia-Saenz, J., Gaudet, M., Giles, G., Grip, Mervi, Guénel, P., Haiman, Christopher A., Håkansson, Niclas, Hall, P., Hamann, Ute, Han, Sileny N., Hart, S., Hartman, M., Heyworth, Jane S., Hoppe, Reiner, Hopper, John L., Hunter, David J., Ito, H., Jager, A., Jakimovska, Milena, Jakubowska, A., Janni, W., Kaaks, R., Kang, Daehee, Middha Kapoor, P., Kitahara, Cari M., Koutros, S., Kraft, Peter, Kristensen, Vessela N., Lacey, James V., Lambrechts, D., Le Marchand, Loic, Li, J., Lindblom, Annika, Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mariapun, Shivaani, Matsuo, K., Mavroudis, Dimitrios, Milne, R., Muranen, T., Newman, W., Noh, Dong-Young, Nordestgaard, Børge G., Obi, Nadia, Olshan, Andrew F., Olsson, Håkan, Park-Simon, T., Petridis, Christos, Pharoah, P., Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rashid, Muhammad U., Rennert, G., Rennert, H., Rhenius, V., Romero, A., Saloustros, E., Sawyer, Elinor J., Schneeweiss, A., Schwentner, Lukas, Scott, C., Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Southey, M., Stram, D., Tamimi, R., Tapper, William, Tollenaar, Rob A.E.M., Tomlinson, I., Torres, D., Troester, Melissa A., Truong, Thérèse, Vachon, C., Wang, Qin, Wang, Sophia S., Williams, Justin A., Winqvist, Robert, Wolk, A., Wu, Anna H., Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Ziogas, A., Yang, Xiaohong R., Eliassen, A. Heather, Holmes, M., Garcia-Closas, M., Teo, S., Schmidt, M. and Chang-Claude, J. 2021. Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium. Cancer Epidemiology, Biomarkers and Prevention. 30 (4), pp. 623-642. https://doi.org/10.1158/1055-9965.epi-20-0924

A Key Action Plan for Education in a Global Crisis
Soriano, V., Cordona, P. and Corpas, M. 2021. A Key Action Plan for Education in a Global Crisis. in: Burgos, D., Tlili, A. and Tabacco, A. (ed.) Radical Solutions for Education in a Crisis Context Springer. pp. 263-272

Whole Genome Interpretation for a Family of Five
Corpas, M., Megy, K., Mistry, V., Metastasio, A. and Lehmann, E. 2021. Whole Genome Interpretation for a Family of Five. Frontiers in Genetics. 12 535123. https://doi.org/10.3389/fgene.2021.535123

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment.
Morra, Anna, Escala-Garcia, Maria, Beesley, Jonathan, Keeman, Renske, Canisius, Sander, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L, Augustinsson, Annelie, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bojesen, Stig E, Bolla, Manjeet K, Brenner, Hermann, Brüning, Thomas, Buys, Saundra S, Caan, Bette, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Cheng, Ting-Yuan David, Clarke, Christine L, Colonna, Sarah V, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Dörk, T., Dossus, Laure, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Fritschi, Lin, Gago-Dominguez, Manuela, García-Sáenz, José A, Giles, Graham G, Grip, Mervi, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N, Hartikainen, Jaana M, Hartmann, Arndt, He, Wei, Hooning, Maartje J, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Hunter, David J, Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey Y, Kaaks, Rudolf, Keupers, Machteld, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Linet, Martha, Luben, Robert N, Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martens, John W M, Martinez, Maria Elena, Mavroudis, Dimitrios, Michailidou, Kyriaki, Milne, Roger L, Mulligan, Anna Marie, Muranen, Taru A, Nevanlinna, Heli, Newman, W., Nielsen, Sune F, Nordestgaard, Børge G, Olshan, Andrew F, Olsson, Håkan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa V, Peissel, Bernard, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Presneau, Nadege, Rack, Brigitte, Rennert, Gad, Rennert, Hedy S, Rhenius, Valerie, Romero, A., Roylance, Rebecca, Ruebner, Matthias, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Schneeweiss, Andreas, Scott, Christopher, Shah, Mitul, Smichkoska, Snezhana, Southey, Melissa C, Stone, J., Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Teras, Lauren R, Terry, Mary Beth, Tollenaar, Rob A E M, Tomlinson, Ian, Troester, Melissa A, Truong, Thérèse, Vachon, Celine M, Wang, Qin, Hurson, Amber N, Winqvist, Robert, Wolk, Alicja, Ziogas, Argyrios, Brauch, Hiltrud, García-Closas, Montserrat, Pharoah, Paul D P, Easton, Douglas F, Chenevix-Trench, Georgia and Schmidt, M. 2021. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment. Breast cancer research : BCR. 23 (1) 86. https://doi.org/10.1186/s13058-021-01450-7

Mendelian randomisation study of smoking exposure in relation to breast cancer risk.
Park, H., Neumeyer, Sonja, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, J., Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, A., Baten, Adinda, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, H., Brucker, Sara Y, Burwinkel, Barbara, Campa, Daniele, Canzian, F., Castelao, Jose E, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, NBCS Collaborators, Conroy, Don M, Couch, Fergus J, Cox, A., Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, P., Dörk, Thilo, Dos-Santos-Silva, Isabel, Dwek, Miriam, Eccles, Diana M, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, P., Flyger, Henrik, Fritschi, Lin, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Grip, Mervi, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Han, Sileny, Harkness, E., Hart, S., He, Wei, Heemskerk-Gerritsen, B., Hopper, John L, Hunter, David J, ABCTB Investigators, kConFab Investigators, Jager, Agnes, Jakubowska, A., John, Esther M, Jung, Audrey, Kaaks, Rudolf, Middha Kapoor, P., Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Koppert, Linetta B, Koutros, Stella, Kristensen, Vessela N, Kurian, A., Lacey, James, Lambrechts, Diether, Le Marchand, Loic, Lo, Wing-Yee, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Meindl, Alfons, Menon, Usha, Milne, Roger L, Muranen, Taru A, Nevanlinna, Heli, Newman, W., Nordestgaard, Børge G, Offit, Kenneth, Olshan, Andrew F, Olsson, Håkan, Park-Simon, Tjoung-Won, Peterlongo, P., Peto, J., Plaseska-Karanfilska, Dijana, Presneau, Nadege, Radice, Paolo, Rennert, Gad, Rennert, Hedy S, Romero, Atocha, Saloustros, Emmanouil, Sawyer, E., Schmidt, Marjanka K, Schmutzler, Rita K, Schoemaker, Minouk J, Schwentner, Lukas, Scott, C., Shah, Mitul, Shu, Xiao-Ou, Simard, Jacques, Smeets, A., Southey, Melissa C, Spinelli, John J, Stevens, Victoria, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Terry, Mary Beth, Tomlinson, I., Troester, Melissa A, Truong, T., Vachon, Celine M, van Veen, Elke M, Vijai, Joseph, Wang, Sophia, Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Ziogas, Argyrios, Dunning, Alison M, Pharoah, P., Easton, Douglas F, Zheng, Wei, Kraft, Peter and Chang-Claude, Jenny 2021. Mendelian randomisation study of smoking exposure in relation to breast cancer risk. British Journal of Cancer. https://doi.org/10.1038/s41416-021-01432-8

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
Baxter, Joseph S, Johnson, Nichola, Tomczyk, Katarzyna, Gillespie, Andrea, Maguire, Sarah, Brough, Rachel, Fachal, Laura, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Brucker, Sara Y, Cai, Qiuyin, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chan, Tsun L, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Clarke, Christine L, NBCS Collaborators, Colonna, Sarah, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Chi, García-Closas, Montserrat, García-Sáenz, José A, Ghoussaini, Maya, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hatse, Sigrid, Hauke, Jan, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Hou, Ming-Feng, kConFab Investigators, ABCTB Investigators, Ito, Hidemi, Iwasaki, Motoki, Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Joseph, Vijai, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Keeman, Renske, Khusnutdinova, Elza, Kim, Sung-Won, Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Kwong, Ava, Lacey, James V, Lambrechts, Diether, Larson, Nicole L, Larsson, Susanna C, Le Marchand, Loic, Lejbkowicz, Flavio, Li, Jingmei, Long, Jirong, Lophatananon, Artitaya, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Mayes, Rebecca, Menon, Usha, Milne, Roger L, Mohd Taib, Nur Aishah, Muir, Kenneth, Muranen, Taru A, Murphy, Rachel A, Nevanlinna, Heli, O'Brien, Katie M, Offit, Kenneth, Olson, Janet E, Olsson, Håkan, Park, Sue K, Park-Simon, Tjoung-Won, Patel, Alpa V, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Rennert, Gad, Romero, Atocha, Ruebner, Matthias, Rüdiger, Thomas, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C, Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Teo, Soo Hwang, Teras, Lauren R, Terry, Mary Beth, Toland, Amanda E, Tomlinson, Ian, Truong, Thérèse, Tseng, Chiu-Chen, Untch, Michael, Vachon, Celine M, van den Ouweland, Ans M W, Wang, Sophia S, Weinberg, Clarice R, Wendt, Camilla, Winham, Stacey J, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Yamaji, Taiki, Zheng, Wei, Ziogas, Argyrios, Pharoah, Paul D P, Dunning, Alison M, Easton, Douglas F, Pettitt, Stephen J, Lord, Christopher J, Haider, Syed, Orr, Nick and Fletcher, Olivia 2021. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element. American Journal of Human Genetics. 108, pp. 1190-1203. https://doi.org/10.1016/j.ajhg.2021.05.013

Clinical relevance assessment of animal preclinical research (RAA) tool: development and explanation.
Gurusamy, K., Moher, D., Loizidou, M., Ahmed, Irfan, Avey, M., Barron, Carly C, Davidson, Brian, Dwek, M., Gluud, C., Jell, G., Katakam, Kiran, Montroy, Joshua, McHugh, T., Osborne, N., Ritskes-Hoitinga, M., van Laarhoven, Kees, Vollert, Jan and Lalu, Manoj 2021. Clinical relevance assessment of animal preclinical research (RAA) tool: development and explanation. PeerJ . 9 e10673. https://doi.org/10.7717/peerj.10673

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Liu, J., Prager-van der Smissen, W.J.C., Collée, J.M., Bolla, M.K., Wang, Q., Michailidou, K., Dennis, J., Ahearn, T.U., Aittomäki, K., Ambrosone, C.B., Andrulis, I.L., Hollestelle, A. and Dwek, M. 2020. Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. Scientific Reports. 10 9688. https://doi.org/10.1038/s41598-020-65665-y

Cancer cells grown in 3D under fluid flow exhibit an aggressive phenotype and reduced responsiveness to the anti-cancer treatment doxorubicin.
Azimi, T., Loizidou, M. and Dwek, M. 2020. Cancer cells grown in 3D under fluid flow exhibit an aggressive phenotype and reduced responsiveness to the anti-cancer treatment doxorubicin. Scientific Reports. 10 (1) 12020. https://doi.org/10.1038/s41598-020-68999-9

Machine Learning Prediction of Susceptibility to Visceral Fat Associated Diseases
Aldraimli, M., Soria, D., Parkinson, J., Thomas, E.L., Bell, J.D., Dwek, M. and Chaussalet, T.J. 2020. Machine Learning Prediction of Susceptibility to Visceral Fat Associated Diseases. Health and Technology. 10, pp. 925-944. https://doi.org/10.1007/s12553-020-00446-1

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
Maria Escala-Garcia, Jean Abraham, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Alan Ashworth, Paul L. Auer, Päivi Auvinen, Matthias W. Beckmann, Jonathan Beesley, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, William Blot, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Anne-Lise Børresen-Dale, Hiltrud Brauch, Hermann Brenner, Sara Y. Brucker, Barbara Burwinkel, Carlos Caldas, Federico Canzian, Jenny Chang-Claude, Stephen J. Chanock, Suet-Feung Chin, Christine L. Clarke, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Joe Dennis, Peter Devilee, Janet A. Dunn, Alison M. Dunning, Miriam Dwek, Helena M. Earl, Diana M. Eccles, A. Heather Eliassen, Carolina Ellberg, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Manuela Gago-Dominguez, Susan M. Gapstur, Montserrat García-Closas, José A. García-Sáenz, Mia M. Gaudet, Angela George, Graham G. Giles, David E. Goldgar, Anna González-Neira, Mervi Grip, Pascal Guénel, Qi Guo, Christopher A. Haiman, Niclas Håkansson, Ute Hamann, Patricia A. Harrington, Louise Hiller, Maartje J. Hooning, John L. Hopper, Anthony Howell, Chiun-Sheng Huang, Guanmengqian Huang, David J. Hunter, Anna Jakubowska, Esther M. John, Rudolf Kaaks, Pooja Middha Kapoor, Renske Keeman, Cari M. Kitahara, Linetta B. Koppert, Peter Kraft, Vessela N. Kristensen, Diether Lambrechts, Loic Le Marchand, Flavio Lejbkowicz, Annika Lindblom, Jan Lubiński, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Maria Elena Martinez, Tabea Maurer, Dimitrios Mavroudis, Alfons Meindl, Roger L. Milne, Anna Marie Mulligan, Susan L. Neuhausen, Heli Nevanlinna, William G. Newman, Andrew F. Olshan, Janet E. Olson, Håkan Olsson, Nick Orr, Paolo Peterlongo, Christos Petridis, Ross L. Prentice, Nadege Presneau, Kevin Punie, Dhanya Ramachandran, Gad Rennert, Atocha Romero, Mythily Sachchithananthan, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Lukas Schwentner, Christopher Scott, Jacques Simard, Christof Sohn, Melissa C. Southey, Anthony J. Swerdlow, Rulla M. Tamimi, William J. Tapper, Manuel R. Teixeira, Mary Beth Terry, Heather Thorne, Rob A. E. M. Tollenaar, Ian Tomlinson, Melissa A. Troester, Thérèse Truong, Clare Turnbull, Celine M. Vachon, Lizet E. van der Kolk, Qin Wang, Robert Winqvist, Alicja Wolk, Xiaohong R. Yang, Argyrios Ziogas, Paul D. P. Pharoah, Per Hall, Lodewyk F. A. Wessels, Georgia Chenevix-Trench, Gary D. Bader, Thilo Dörk, Douglas F. Easton, Sander Canisius & Marjanka K. Schmidt, Dwek, M. and Presneau, Nadège 2020. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis. Nature Communications . 16 (11) 312. https://doi.org/10.1038/s41467-019-14100-6

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Fachal, L., Aschard, H., Beesley, J., Barnes, D.R., Allen, J., Kar, S., Pooley, K.A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemaçon, A., Lush, M., Tyrer, J.P., Dunning, A.M. and Dwek, M. 2020. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nature Genetics. 52, pp. 56-73. https://doi.org/10.1038/s41588-019-0537-1

Serum IgA1 shows increased levels of α 2,6-linked sialic acid in breast cancer
Lomax-Browne, Hannah J., Robertson, Claire, Antonopoulos, Aristotelis, Leathem, Anthony J. C., Haslam, Stuart M., Dell, Anne and Dwek, M. 2019. Serum IgA1 shows increased levels of α 2,6-linked sialic acid in breast cancer. Interface Focus. 9 (2), p. 20180079 20180079. https://doi.org/10.1098/rsfs.2018.0079

Simplifying access to human genomic data: community platform Repositive.io
Kovalevskaya, N. V., Whicher, C., Corpas, M., Shaw, R. and Nielsen, F. 2019. Simplifying access to human genomic data: community platform Repositive.io. European Journal of Human Genetics. 26 (S), p. 714. https://doi.org/10.1038/s41431-018-0247-7

Genome-wide association study of germline variants and breast cancer-specific mortality.
Escala-Garcia, M., Guo, Q., Dörk, T., Canisius, S., Keeman, R., Dennis, J., Beesley, J., Lecarpentier, J., Bolla, M.K., Wang, Q., Abraham, J., Andrulis, I.L., Anton-Culver, H., Schmidt, M.K. and Dwek, M. 2019. Genome-wide association study of germline variants and breast cancer-specific mortality. British Journal of Cancer. 120, pp. 647-657. https://doi.org/10.1038/s41416-019-0393-x

Machine Learning Classification of Females Susceptibility to Visceral Fat Associated Diseases
Aldraimli, M., Soria, D., Parkinson, J., Whitcher, B., Thomas, E.L., Bell, J.D., Chaussalet, T.J. and Dwek, M. 2019. Machine Learning Classification of Females Susceptibility to Visceral Fat Associated Diseases. MEDICON 2019: XV Mediterranean Conference on Medical and Biological Engineering and Computing. Coimbra, Portugal 26 - 28 Sep 2019 Springer. https://doi.org/10.1007/978-3-030-31635-8_81

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Ferreira, M.A., Gamazon, E.R., Al-Ejeh, F., Aittomäki, K., Andrulis, I.L., Anton-Culver, H., Arason, A., Arndt, V., Aronson, K.J., Arun, B.K., Asseryanis, E., Azzollini, J., Chenevix-Trench, G., Dwek, M. and Presneau, Nadège 2019. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature Communications . 10, p. 1741. https://doi.org/10.1038/s41467-018-08053-5

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
Mavaddat, N., Michailidou, K., Dennis, J., Lush, M., Fachal, L., Lee, A., Tyrer, J.P., Chen, T.H., Wang, Q., Bolla, M.K., Yang, X., Adank, M.A., Ahearn, T., Aittomäki, K., Allen, J., Easton, D.F., Dwek, M. and Presneau, Nadège 2019. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. American Journal of Human Genetics. 104 (1), pp. 21-34. https://doi.org/10.1016/j.ajhg.2018.11.002

Shared heritability and functional enrichment across six solid cancers.
Jiang, X., Finucane, H.K., Schumacher, F.R., Schmit, S.L., Tyrer, J.P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K.B., Dennis, J., Conti, D.V., Casey, G., Gaudet, M.M., Lindström, S. and Dwek, M. 2019. Shared heritability and functional enrichment across six solid cancers. Nature Communications . 10 431. https://doi.org/10.1038/s41467-018-08054-4

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis
Xiang Shu, Lang Wu, Nikhil K Khankari, Xiao-Ou Shu, Thomas J Wang, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Roger L Milne, Marjanka K Schmidt, Paul D P Pharoah, Irene L Andrulis, David J Hunter, Jacques Simard, Douglas F Easton, Wei Zheng, Breast Cancer Association Consortium and Dwek, M. 2019. Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis . International Journal of Epidemiology. 48 (3), pp. 795-806. https://doi.org/10.1093/ije/dyy201

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases
Bueno, A., Rodríguez-López, R., Reyes-Palomares, A., Rojano, E., Corpas, M., Nevado, J., Lapunzina, P., Sánchez-Jiménez, F. and Ranea, J.A.G. 2018. Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases. European Journal of Human Genetics. 26, pp. 1451-1461. https://doi.org/10.1038/s41431-018-0139-x

A FAIR guide for data providers to maximise sharing of human genomic data
Corpas, M., Kovalevskaya, N.V., McMurray, A. and Nielsen, F.G.G. 2018. A FAIR guide for data providers to maximise sharing of human genomic data. PLOS Computational Biology. 14 (3) e1005873. https://doi.org/10.1371/journal.pcbi.1005873

Personal Genome Project UK (PGP-UK): A research and citizen science hybrid project in support of personalized medicine
Beck, S., Berner, A.M., Bignell, G., Bond, M., Callanan, M.J., Chervova, O., Conde, L., Corpas, M., Ecker, S., Elliott, H.R., Fioramonti, S.A., Flanagan, A.M., Gaentzsch, R., Graham, D., Gribbin, D., Guerra-Assunção, J.A., Hamoudi, R., Harding, V., Harrison, P.L., Herrero, J., Hofmann, J., Jones, E., Khan, S., Kaye, J., Kerr, P., Libertini, E., Marks, L., McCormack, L., Moghul, I., Pontikos, N., Rajanayagam, S., Rana, K., Semega-Janneh, M., Smith, C.P., Strom, L., Umur, S., Webster, A.P., Williams, E.H., Wint, K. and Wood, J.N. 2018. Personal Genome Project UK (PGP-UK): A research and citizen science hybrid project in support of personalized medicine. BMC Medical Genomics. 11 108. https://doi.org/10.1186/s12920-018-0423-1

APPLaUD: Access for patients and participants to individual level uninterpreted genomic data
Thorogood, A., Bobe, J., Prainsack, B., Middleton, A., Scott, E., Nelson, S., Corpas, M., Bonhomme, N., Rodriguez, L.L., Murtagh, M. and Kleiderman, E. 2018. APPLaUD: Access for patients and participants to individual level uninterpreted genomic data. Human Genomics. 12 7. https://doi.org/10.1186/s40246-018-0139-5

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
Wu, L., Shi, W., Long, J., Guo, X., Michailidou, K., Beesley, J., Bolla, M.K., Shu, X.O., Lu, Y., Cai, Q., Al-Ejeh, F., Rozali, E., Wang, Q., Dennis, J., Li, B., Zeng, C., Feng, H., Zheng, W. and Dwek, M. 2018. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. Nature Genetics. 50, pp. 968-978. https://doi.org/10.1038/s41588-018-0132-x

Glycosylation and Disease
Dwek, M. and Markiv, A. 2018. Glycosylation and Disease. eLS. 10.1002/9780470015902.a0002151.pub3. https://doi.org/10.1002/9780470015902.a0002151.pub3

Four simple recommendations to encourage best practices in research software [version 1; referees: awaiting peer review]
Jiménez, R.C., Kuzak, M., Alhamdoosh, M., Barker, M., Batut, B., Borg, M., Capella-Gutierrez, S., Hong, N.C., Cook, M., Corpas, M., Flannery, M., Leyla Garcia, L., Josep Ll. Gelpí, J.L., Simon Gladman, S., Carole Goble, C., González Ferreiro, M., Gonzalez-Beltran, A., Griffin, P.C., Grüning, B., Hagberg, J., Holub, P., Hooft, R., Ison, J., Katz, D.S., Leskošek, B., López Gómez, F., Luis J. Oliveira, L.J., David Mellor, D., Mosbergen, R., Mulder, N., Perez-Riverol, Y., Pergl, R., Pichler, H., Pope, B., Sanz, F., Schneider, M.V., Stodden, V., Suchecki, R., Vařeková, R.S., Talvik, H.-A., Todorov, I., Treloar, A., Tyagi, S., van Gompel, M., Vaughan, D., Via, A., Wang, X., Watson-Haigh, N.S. and Crouch, S. 2017. Four simple recommendations to encourage best practices in research software [version 1; referees: awaiting peer review]. F1000Research. 6 876. https://doi.org/10.12688/f1000research.11407.1

Genome sequencing of the staple food crop white Guinea yam enables the development of a molecular marker for sex determination.
Corpas, M. 2017. Genome sequencing of the staple food crop white Guinea yam enables the development of a molecular marker for sex determination. BMC Biology. 15 86. https://doi.org/10.1186/s12915-017-0419-x

BioCIDER: a Contextualisation InDEx for biological Resources discovery
Horro, C., Cook, M., Attwood, T.K., Brazas, M.D., Hancock, J.M., Palagi, P., Corpas, M. and Jimenez, R. 2017. BioCIDER: a Contextualisation InDEx for biological Resources discovery. Bioinformatics. 33 (16), pp. 2607-2608. https://doi.org/10.1093/bioinformatics/btx213

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Milne, R.L., Kuchenbaecker, K.B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Simard, J., Dwek, M. and Presneau, Nadège 2017. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nature Genetics. 49, pp. 1767-1778. https://doi.org/10.1038/ng.3785

Association analysis identifies 65 new breast cancer risk loci
Michailidou, K., Lindström, S., Dennis, J., Beesley, J., Hui, S., Kar, S., Lemaçon, A., Soucy, P., Glubb, D., Rostamianfar, A., Bolla, M.K., Wang, Q., Tyrer, J., Dicks, E., Easton, D.F., Dwek, M. and Presneau, Nadège 2017. Association analysis identifies 65 new breast cancer risk loci. Nature. 551, pp. 92-94. https://doi.org/10.1038/nature24284

PhytoCloud: A gamified Mobile Web Application to modulate diet and physical activity of women with breast cancer
Economou, D., Dwek, M., Elliott, B., Ramezanian Kalahroudi, M. and Azimi, T. 2017. PhytoCloud: A gamified Mobile Web Application to modulate diet and physical activity of women with breast cancer. IEEE 30th International Symposium on Computer-Based Medical Systems. Thessaloniki, Greece 22 Jun - 24 Sep 2017 IEEE . https://doi.org/10.1109/CBMS.2017.164

Cellular glycosylation affects Herceptin binding and sensitivity of breast cancer cells to doxorubicin and growth factors
Peiris, D., Spector, A.F., Lomax-Browne, H., Azimi, T., Ramesh, B., Loizidou, M., Welch, H. and Dwek, M. 2017. Cellular glycosylation affects Herceptin binding and sensitivity of breast cancer cells to doxorubicin and growth factors. Scientific Reports. 7 43006. https://doi.org/10.1038/srep43006

Systematic identification of phenotypically enriched loci using a patient network of genomic disorders
Reyes-Palomares, A., Bueno, A., Rodríguez-López, R., Medina, M., Sánchez-Jiménez, F., Corpas, M. and Ranea, J.A.G. 2016. Systematic identification of phenotypically enriched loci using a patient network of genomic disorders. BMC Genomics. 17 232. https://doi.org/10.1186/s12864-016-2569-6

Progress on the genome characterisation of D. alata
Corpas, M. 2016. Progress on the genome characterisation of D. alata. Plant and Animal Genome XXIV Conference. Town & Country Resort & Convention Center 09 - 13 Jan 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
Zeng, C., Guo, X., Long, J., Kuchenbaecker, K.B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J.L., Milne, R.L., Bolla, M.K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Arun, B.K., Arver, B., Bacot, F., Barrowdale, D., Baynes, C., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.-L., Brand, J.S., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Carpenter, J., Chang-Claude, J., Choi, J.Y., Claes, K.B.M., Clarke, C., Cox, A., Cross, S.S., Czene, K., Daly, M.B., de la Hoya, M., De Leeneer, K., Devilee, P., Diez, O., Domchek, S.M., Doody, M.M., Dorfling, C.M., Dörk, T., Dos Santos Silva, I., Dumont, M., Dwek, M., Dworniczak, B., Egan, K.M., Eilber, U., Einbeigi, Z., Ejlertsen, B., Ellis, S., Frost, D., Lalloo, F., Fasching, P.A., Figueroa, J.D., Flyger, H., Friedlander, M., Friedman, E., Gambino, G., Gao, Y.T., Garber, J., Garcia-Closas, M., Gehrig, A., Damiola, F., Lesueur, F., Mazoyer, S., Stoppa-Lyonnet, D., Giles, G.G., Godwin, A.K., Goldgar, D.E., González-Neira, A., Greene, M.H., Guenel, P., Haeberle, L., Haiman, C.A., Hallberg, E., Hamann, U., Hansen, T.V.O., Hart, S., Hartikainen, J.M., Hartman, M., Hassan, N., Healey, S., Hogervorst, F.B.L., Verhoef, S., Hendricks, C.B., Hillemanns, P., Hollestelle, A., Hulick, P.J., Hunter, D.J., Imyanitov, E.N., Isaacs, C., Ito, H., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U.B., John, E.M., Beauparlant, C.J., Jones, M., Kabisch, M., Kang, D., Karlan, B.Y., Kauppila, S., Kerin, M.J., Khan, S., Khusnutdinova, E., Knight, J.A., Konstantopoulou, I., Kraft, P., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Le Marchand, L., Lee, C.N., Lee, M.H., Lester, J., Li, J., Liljegren, A., Lindblom, A., Lophatananon, A., Lubinski, J., Mai, P.L., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Matsuo, K., McGuffog, L., Meindl, A., Menegaux, F., Montagna, M., Muir, K., Mulligan, A.M., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Newcomb, P.A., Nord, S., Nussbaum, R.L., Offit, K., Olah, E., Olopade, O.I., Olswold, C., Osorio, A., Papi, L., Park-Simon, T.W., Paulsson-Karlsson. Y., Peeters, S., Peissel, B., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C.M., Presneau, Nadège, Presneau, N., Radice, P., Rahman, N., Ramus, S.J., Rashid, M.U., Rennert, G., Rhiem, K., Rudolph, A., Salani, R., Sangrajrang, S., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schoemaker, M.J., Schürmann, P., Seynaeve, C., Shen, C.Y., Shrubsole, M.J., Shu, X.O., Sigurdson, A., Singer, C.F., Slager, S., Soucy, P., Southey, M., Steinemann, D., Swerdlow, A., Szabo, C.I., Tchatchou, S., Teixeira, M.R., Teo, S.H., Terry, M.B., Tessier, D.C., Teulé, A., Thomassen, M., Tihomirova, L., Tischkowitz, M., Toland, A.E., Tung, N., Turnbull, C., van den Ouweland, A.M., van Rensburg, E.J., Ven den Berg, D., Vijai, J., Wang-Gohrke, S., Weitzel, J.N., Whittemore, A.S., Winqvist, R., Wong, T.Y., Wu, A.H., Yannoukakos, D., Yu, J.C., Pharoah, P.D., Hall, P., Chenevix-Trench, G., Dunning, A.M., Simard, J., Couch, F.J., Antoniou, A.C., Easton, D.F., Antoniou, A.C. and Zheng, W. 2016. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast Cancer Research. 18 (1), p. 64. https://doi.org/10.1186/s13058-016-0718-0

Cadherin-5: a biomarker for metastatic breast cancer with optimum efficacy in oestrogen receptor-positive breast cancers with vascular invasion
Fry, S., Robertson, C.E., Swann, R. and Dwek, M. 2016. Cadherin-5: a biomarker for metastatic breast cancer with optimum efficacy in oestrogen receptor-positive breast cancers with vascular invasion. British Journal of Cancer. 114, pp. 1019-1026. https://doi.org/10.1038/bjc.2016.66

Efficacy of DOPE/DC-cholesterol liposomes and GCPQ micelles as AZD6244 nanocarriers in a 3D colorectal cancer in vitro model
López-Dávila, V., Magdeldin, T., Welch, H., Dwek, M., Uchegbu, I. and Loizidou, M. 2016. Efficacy of DOPE/DC-cholesterol liposomes and GCPQ micelles as AZD6244 nanocarriers in a 3D colorectal cancer in vitro model. Nanomedicine. 11 (4), pp. 331-344. https://doi.org/10.2217/nnm.15.206

Cutting Edge: Lessons from fraxinus, a crowd-sourced citizen science game in genomics
Rallapalli, G., Players, F., Saunders, D.G., Yoshida, K., Edwards, A., Lugo, C.A., Collin, S., Clavijo, B., Corpas, M., Swarbreck, D., Clark, M., Downie, J.A., Kamoun, S., Cooper, T. and Maclean, D. 2015. Cutting Edge: Lessons from fraxinus, a crowd-sourced citizen science game in genomics. eLife. 4 e07460. https://doi.org/10.7554/elife.07460

GOBLET: The Global Organisation for Bioinformatics Learning, Education and Training
Atwood, T.K., Bongcam-Rudloff, E., Brazas, M.E., Corpas, M., Gaudet, P., Lewitter, F., Mulder, N., Palagi, P.M., Schneider, M.V., van Gelder, C.W.G., Attwood, T.K., Banag, C., Blackford, S., Blatter, M.C., Bongcam-Rudloff, E., Brazas, M.D., Brooksbank, C., Budd, A., Charleston, M., Christoffels, A., Conesa, A., Crowe, M., Davies, A., de Crecy-Lagard, V., De Las Rivas, J., Doyle, M., Edwards, R., Facchiano, A., Fernandes, P., Gaeta, B., Gaudet, P., Heger, A., Herringa, J., Hughes, D., Jimenez, R.C., Kille, P., Korpelainen, E., Kumuthini, J., Lewitter, F., MacLean, D., Martinez, S.A.R., McGrath, A., Michalopoulos, I., Mulder, N., Ouellette, B.F., Palagi, P.M., Pearson, W.R., Qi, W., Romano, P., Rother, K., Sansone, S-A., Schneider, M.V., Schönbach, C., Tastan-Bishop, O., Trelles, O., Twells, R., van Gelder, C.W.G., Via, A., Vriend, G., Warnow, T., Watson, M., Westervelt, N. and Zanzoni, A. 2015. GOBLET: The Global Organisation for Bioinformatics Learning, Education and Training. PLOS Computational Biology. 11 (5) e1004281. https://doi.org/10.1371/journal.pcbi.1004143

Crowdsourced direct-to-consumer genomic analysis of a family quartet
Corpas, M., Valdivia-Granda, W., Torres, N., Greshake, B., Coletta, A., Knaus, A., Harrison, A.P., Cariaso, M., Moran, F., Nielsen, F., Swan, D., Weiss Solís, D.Y., Krawitz, P., Schacherer, F., Schols, P., Yang, H., Borry, P., Glusman, G. and Robinson, P.N. 2015. Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics. 16 910. https://doi.org/10.1186/s12864-015-1973-7

The GOBLET training portal: A global repository of bioinformatics training materials, courses and trainers
Corpas, M., Jimenez, R.C., Bongcam-Rudloff, E., Budd, A., Brazas, M.D., Fernandes, P.L., Gaeta, B., Van Gelder, C., Korpelainen, E., Lewitter, F., McGrath, A., MacLean, D., Palagi, P.M., Rother, K., Taylor, J., Via, A., Watson, M., Schneider, M.V. and Attwood, T.K. 2015. The GOBLET training portal: A global repository of bioinformatics training materials, courses and trainers. Bioinformatics. 31 (1), pp. 140-142. https://doi.org/10.1093/bioinformatics/btu601

Ten Simple Rules for Organizing an Unconference
Budd, A., Dinkel, H., Corpas, M., Fuller, J.C., Rubinat, L., Devos, D.P., Khoueiry, P.H., Förstner, K.U., Georgatos, F., Rowland, F., Sharan, M., Binder, J.X., Grace, T., Traphagen, K., Gristwood, A. and Wood, N.T. 2015. Ten Simple Rules for Organizing an Unconference. PLOS Computational Biology. 11 (1) e1003905. https://doi.org/10.1371/journal.pcbi.1003905

Future opportunities and trends for e-infrastructures and life sciences: Going beyond the grid to enable life science data analysis
Duarte, A.M.S., Psomopoulos, F.E., Blanchet, C., Bonvin, A.M.J.J., Corpas, M., Franc, A., Jimenez, R.C., de Lucas, J.M., Nyrönen, T., Sipos, G. and Suhr, S.B. 2015. Future opportunities and trends for e-infrastructures and life sciences: Going beyond the grid to enable life science data analysis. Frontiers in Genetics. 6 197. https://doi.org/10.3389/fgene.2015.00197

Anatomy of BioJS, an open source community for the life sciences
Yachdav, G., Goldberg, T., Wilzbach, S., Dao, D., Shih, I., Choudhary, S., Crouch, S., Franz, M., García, A., García, L.J., Grüning, B.A., Inupakutika, D., Sillitoe, I., Thanki, A.S., Vieira, B., Villaveces, J.M., Schneider, M.V., Lewis, S., Pettifer, S., Rost, B. and Corpas, M. 2015. Anatomy of BioJS, an open source community for the life sciences. eLife. 2015;4 e07009. https://doi.org/10.7554/elife.07009.001

A quick guide for building a successful bioinformatics community
Budd, A., Corpas, M., Brazas, M.D., Fuller, J.C., Goecks, J., Mulder, N.J., Michaut, M., Ouellette, B.F.F., Pawlik, A. and Blomberg, N. 2015. A quick guide for building a successful bioinformatics community. PLOS Computational Biology. 11 (2) e1003972. https://doi.org/10.1371/journal.pcbi.1003972

The Breast Cancer Cookbook
Keshtgar, M., Robertson, C.E. and Dwek, M. Keshtgar, M. (ed.) 2015. The Breast Cancer Cookbook. London Quadrille.

Identification of O-Linked Glycoproteins Binding to the Lectin Helix pomatia Agglutinin as Markers of Metastatic Colorectal Cancer
Peiris, D., Ossondo, M., Fry, S., Loizidou, M., Smith-Ravin, J. and Dwek, M. 2015. Identification of O-Linked Glycoproteins Binding to the Lectin Helix pomatia Agglutinin as Markers of Metastatic Colorectal Cancer. PLoS ONE. 10 (10) e0138345. https://doi.org/10.1371/journal.pone.0138345

Prediction of breast cancer risk based on profiling with common genetic variants
Mavaddat, N., Pharoah, P.D.P., Michailidou, K., Tyrer, J., Brook, M.N., Bolla, M.K., Wang, Q., Dennis, J., Dunning, A.M., Shah, M., Luben, R., Brown, J.C.C., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Czene, K., Darabi, H., Eriksson, M., Peto, J., Dos-Santos-Silva, I., Dudbridge, F., Johnson, N., Schmidt, M.K., Broeks, A., Verhoef, S., Rutgers, E.J., Swerdlow, A.J., Ashworth, A., Orr, N., Schoemaker, M.J., Figueroa, J.D., Chanock, S.J., Brinton, L., Lissowska, J., Couch, F.J., Olson, J.E., Vachon, C., Pankratz, V.S., Lambrechts, D., Wildiers, H., Van Ongeval, C., van Limbergen, E., Kristensen, V., Grenaker Alnaes, G., Nord, S., Borresen-Dale, A.-L., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Trentham-Dietz, A., Newcomb, P., Titus, L., Egan, K.M., Hunter, D.J., Lindstrom, S., Tamimi, R.M., Kraft, P., Rahman, N., Turnbull, C., Renwick, A., Seal, S., Li, J., Liu, J., Humphreys, K., Benitez, J., Pilar Zamora, M., Arias Perez, J.I., Menéndez, P., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Bogdanova, N.V., Antonenkova, N.N., Dörk, T., Anton-Culver, H., Neuhausen, S.L., Ziogas, A., Bernstein, L., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., van Asperen, C.J., Cox, A., Cross, S.S., Reed, M.W., Khusnutdinova, E., Bermisheva, M., Prokofyeva, D., Takhirova, Z., Meindl, A., Schmutzler, R.K., Sutter, C., Yang, R., Schürmann, P., Bremer, M., Christiansen, H., Park-Simon, T.-W., Hillemanns, P., Guenel, P., Truong, T., Menegaux, F., Sanchez, M., Radice, P., Peterlongo, P., Manoukian, S., Pensotti, V., Hopper, J.L., Tsimiklis, H., Apicella, C., Southey, M.C., Brauch, H., Brüning, T., Ko, Y.-D., Sigurdson, A.J., Doody, M.M., Hamann, U., Torres, D., Ulmer, H.U., Försti, A., Sawyer, E., Tomlinson, I., Kerin, M.J., Miller, N., Andrulis, I.L., Knight, J.A., Glendon, G., Marie Mulligan, A., Chenevix-Trench, G., Balleine, R., Giles, G.G., Milne, R.L., McLean, C.A., Lindblom, A., Margolin, S., Haiman, C.A., Henderson, B.E., Schumacher, F., Le Marchand, L., Eilber, U., Wang-Gohrke, S., Hooning, M.J., Hollestelle, A., van den Ouweland, A.M.W., Koppert, L.B., Carpenter, J., Clarke, C., Scott, R., Mannermaa, A., Kataja, V., Kosma, V.-M., Hartikainen, J.M., Brenner, H., Arndt, V., Stegmaier, C., Karina Dieffenbach, A., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Offit, K., Vijai, J., Robson, M., Rau-Murthy, R., Dwek, M., Swann, R., Annie Perkins, K., Goldberg, M.S., Labrèche, F., Dumont, M., Eccles, D.M., Tapper, W.J., Rafiq, S., John, E.M., Whittemore, A.S., Slager, S., Yannoukakos, D., Toland, A.E., Yao, S., Zheng, W., Halverson, S.L., Gonzalez-Neira, A., Pita, G., Rosario Alonso, M., Álvarez, N., Herrero, D., Tessier, D.C., Vincent, D., Bacot, F., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C.S., Simard, J., Hall, P., Easton, D.F., Garcia-Closas, M., Dos Santos Silva, I., Channock, S.J., Zamora, M.P., Ignacio Arias Perez, J., Neuhasen, S.L., Prokofieva, D., Mulligan, A.M., Halman, C.A., Dieffenbach, A.K., Perkins, K.A. and Alonso, M.R. 2015. Prediction of breast cancer risk based on profiling with common genetic variants. Journal of the National Cancer Institute. 107 (5). https://doi.org/10.1093/jnci/djv036

DNAContentViewer a BioJS component to visualise GC/AT Content
Thanki, A.S., Caim, S., Corpas, M. and Davey, R.P. 2014. DNAContentViewer a BioJS component to visualise GC/AT Content. F1000Research. 3 54. https://doi.org/10.12688/f1000research.3-54.v1

wigExplorer, a BioJS component to visualise wig data
Thanki, A.S., Jimenez, R.C., Kaithakottil, G.G., Corpas, M. and Davey, R.P. 2014. wigExplorer, a BioJS component to visualise wig data. F1000Research. 3 53. https://doi.org/10.12688/f1000research.3-53.v1

BioJS: An open source standard for biological visualisation - its status in 2014
Corpas, M., Jimenez, R., Carbon, S.J., GarcÍa, A., Garcia, L., Goldberg, T., Gomez, J., Kalderimis, A., Lewis, S.E., Mulvany, I., Pawlik, A., Rowland, F., Salazar, G., Schreiber, F., Sillitoe, I., Spooner, W.H., Thanki, A.S., Villaveces, J.M., Yachdav, G. and Hermjakob, H. 2014. BioJS: An open source standard for biological visualisation - its status in 2014. F1000Research. 3 55. https://doi.org/10.12688/f1000research.3-55.v1

The BioJS article collection of open source components for biological data visualisation.
Corpas, M. 2014. The BioJS article collection of open source components for biological data visualisation. F1000Research. 3 56. https://doi.org/10.12688/f1000research.3-56.v1

Genetic predisposition to in situ and invasive lobular carcinoma of the breast.
Sawyer, E., Roylance, R., Petridis, C., Brook, M.N., Nowinski, S., Papouli, E., Fletcher, O., Pinder, S., Hanby, A., Kohut, K., Gorman, P., Caneppele, M., Peto, J., Garcia-Closas, M. and Dwek, M. 2014. Genetic predisposition to in situ and invasive lobular carcinoma of the breast. PLoS genetics. 10 (4) e1004285. https://doi.org/10.1371/journal.pgen.1004285

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Spurdle, A.B., Couch, F.J., Parsons, M.T., McGuffog, L., Barrowdale, D., Bolla, M.K., Wang, Q., Healey, S., Schmutzler, R., Wappenschmidt, B., Rhiem, K., Hahnen, E., Engel, C., kConFab Investigators and Dwek, M. 2014. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Research. 16 3419. https://doi.org/10.1186/s13058-014-0474-y

Functional Studies On Receptor-Type Protein Tyrosine Phosphatases Of The R3 Subgroup Using Bimolecular Fluorescence Complementation (BiFC) Assays
Dorofejeva, O., Dwek, M. and Barr, A.J. 2014. Functional Studies On Receptor-Type Protein Tyrosine Phosphatases Of The R3 Subgroup Using Bimolecular Fluorescence Complementation (BiFC) Assays . Pharmacology 2014. London 16 Dec 2014 British Pharmacological Society.

The Young PI Buzz: Learning from the Organizers of the Junior Principal Investigator Meeting at ISMB-ECCB 2013
de Ridder, J., Bromberg, Y., Michaut, M., Satagopam, V.P., Corpas, M., Macintyre, G. and Alexandrov, T. 2013. The Young PI Buzz: Learning from the Organizers of the Junior Principal Investigator Meeting at ISMB-ECCB 2013. PLOS Computational Biology. https://doi.org/10.1371/journal.pcbi.1003350

Bioinformatics workflows and web services in systems biology made easy for experimentalists
Jimenez, R.C. and Corpas, M. 2013. Bioinformatics workflows and web services in systems biology made easy for experimentalists. in: Schneider, M.V. (ed.) In Silico Systems Biology Humana Press. pp. 299-310

BioJS: an open source JavaScript framework for biological data visualization
Gómez, J., García, L.J., Salazar, G.A., Villaveces, J., Gore, S., García, A., Martín, M.J., Launay, G., Alcántara, R., Del-Toro, N., Dumousseau, M., Orchard, S., Velankar, S., Hermjakob, H., Zong, C., Ping, P., Corpas, M. and Jiménez, R.C. 2013. BioJS: an open source JavaScript framework for biological data visualization. Bioinformatics. 29 (8), pp. 1103-1104. https://doi.org/10.1093/bioinformatics/btt100

iAnn: an event sharing platform for the life sciences
Jimenez, R.C., Albar, J.P., Bhak, J., Blatter, M.C., Blicher, T., Brazas, M.D., Brooksbank, C., Budd, A., De Las Rivas, J., Dreyer, J., van Driel, M.A., Dunn, M.J., Fernandes, P.L., van Gelder, C.W., Hermjakob, H., Ioannidis, V., Judge, D.P., Kahlem, P., Korpelainen, E., Kraus, H.J., Loveland, J., Mayer, C., McDowall, J., Moran, F., Mulder, N., Nyronen, T., Rother, K., Salazar, G.A., Schneider, R., Via, A., Villaveces, J.M., Yu, P., Schneider, M.V., Attwood, T.K. and Corpas, M. 2013. iAnn: an event sharing platform for the life sciences. Bioinformatics. 29 (15), pp. 1919-1921. https://doi.org/10.1093/bioinformatics/btt306

Crowdsourcing the corpasome
Corpas M 2013. Crowdsourcing the corpasome. Source Code for Biology and Medicine. 8 13. https://doi.org/10.1186/1751-0473-8-13

Preferential lectin binding of cancer cells upon sialic acid treatment under nutrient deprivation.
Badr, H.A., Elsayed, A.I., Ahmed, H., Dwek, M.V., Li, C.Z. and Djansugurova, L.B. 2013. Preferential lectin binding of cancer cells upon sialic acid treatment under nutrient deprivation. Applied Biochemistry and Biotechnology. 171, pp. 963-974. https://doi.org/10.1007/s12010-013-0409-6

Conjugation of quantum dots on carbon nanotubes for medical diagnosis and treatment
Madani, S.Y., Shabani, F., Dwek, M. and Seifalian, A.M. 2013. Conjugation of quantum dots on carbon nanotubes for medical diagnosis and treatment. International Journal of Nanomedicine. 8 (1), pp. 941-950. https://doi.org/10.2147/IJN.S36416

A targeted glycoproteomic approach identifies cadherin-5 as a novel biomarker of metastatic breast cancer
Fry, S., Sinclair, J., Timms, J.F., Leathem, A. and Dwek, M. 2013. A targeted glycoproteomic approach identifies cadherin-5 as a novel biomarker of metastatic breast cancer. Cancer Letters. 328 (2), pp. 335-344. https://doi.org/10.1016/j.canlet.2012.10.011

The DietCompLyf study: a prospective cohort study of breast cancer survival and phytoestrogen consumption
Swann, R., Perkins, K.A., Velentzis, L.S., Ciria, C., Dutton, S., Mulligan, A.A., Woodside, J., Cantwell, M.M., Leathem, A., Robertson, C.E. and Dwek, M. 2013. The DietCompLyf study: a prospective cohort study of breast cancer survival and phytoestrogen consumption. Maturitas. 75 (3), pp. 232-240. https://doi.org/10.1016/j.maturitas.2013.03.018

The DietCompLyf study: a prospective longitudinal study of breast cancer survival
Swann, R., Perkins, A., Velentzis, L.S., Mulligan, A.M., Woodside, J., Cantwell, M.M., Dutton, S., Leathem, A., Robertson, C.E. and Dwek, M. 2012. The DietCompLyf study: a prospective longitudinal study of breast cancer survival. European Journal of Cancer. 48 (5), p. S216. https://doi.org/10.1016/S0959-8049(12)71525-3

DietCompLyf study: a multi-centre UK study on breast cancer. What are the dietary and lifestyle changes following diagnosis?
Perkins, A., Swann, R., Woodside, J., Robertson, C.E., Dutton, S., Mulligan, A.M., Velentzis, L.S., Keshtgar, M.R., Leathem, A. and Dwek, M. 2012. DietCompLyf study: a multi-centre UK study on breast cancer. What are the dietary and lifestyle changes following diagnosis? European Journal of Cancer. 48 (5), p. S282. https://doi.org/10.1016/S0959-8049(12)71766-5

Identification of metastasis-associated glycoproteins in colorectal cancer
Peiris, D., Markiv, A., Curley, G.P. and Dwek, M. 2012. Identification of metastasis-associated glycoproteins in colorectal cancer. European Journal of Cancer. 48 (5), pp. S39-S40. https://doi.org/10.1016/S0959-8049(12)70863-8

19p13.1 is a triple negative-specific breast cancer susceptibility locus
Stevens, K.N., Fredericksen, Z., Vachon, C., Wang, X., Margolin, S., Lindblom, A., Nevanlinna, H., Greco, D., Aittomaki, K., Blomqvist, C., Chang-Claude, J., Vrieling, A., Flesch-Janys, D., Sinn, H.P., Wang-Gohrke, S., Nickels, S., Brauch, H., Ko, Y.-D., Fischer, H.P., Schmutzler, R.K., Meindl, A., Bartram, C.R., Schott, S., Engel, C., Godwin, A.K., Weaver, J., Pathak, H.B., Sharma, P., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Miron, P., Yannoukakos, D., Stavropoulou, A., Fountzilas, G., Gogas, H.J., Swann, R., Dwek, M., Perkins, A., Milne, R.L., Benitez, J., Zamora, M.P., Ignacio Arias Perez, J., Bojesen, S.E., Nielsen, S.F., Nordestgaard, B.G., Flyger, H., Guenel, P., Truong, T., Menegaux, F., Cordina-Duverger, E., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Sawyer, E., Tomlinson, I., Kerin, M.J., Peto, J., Johnson, N., Fletcher, O., Dos Santos Silva, I., Fasching, P.A., Beckmann, M.W., Hartmann, A., Ekici, A.B., Lophatananon, A., Muir, K., Puttawibul, P., Wiangnon, S., Schmidt, M.K., Broeks, A., Braaf, L.M., Rosenberg, E.H., Hopper, J.L., Apicella, C., Park, D.J., Southey, M.C., Swerdlow, A.J., Ashworth, A., Orr, N., Schoemaker, M.J., Anton-Culver, H., Ziogas, A., Bernstein, L., Clarke Dur, C., Shen, C.Y., Yu, J.C., Hsu, H.M., Hsiung, C.N., Hamann, U., Dünnebier, T., Rüdiger, T., Ulmer, H.U., Pharoah, P.D.P., Dunning, A.M., Humphreys, M.K., Wang, Q., Cox, A., Cross, S.S., Reed, M.W.R., Hall, P., Czene, K., Ambrosone, C.B., Ademuyiwa, F., Hwang, H., Eccles, D.M., Garcia-Closas, M., Figueroa, J.D., Sherman, M.E., Lissowska, J., Devilee, P., Seynaeve, C., Tollenaar, R.A.E.M., Hooning, M.J., Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., John, E.M., Miron, A., Grenaker Alnaes, G., Kristensen, V., Borresen-Dale, A.L., Giles, G.G., Baglietto, L., McLean, C.A., Severi, G., Kose, M.L., Pankratz, V.S., Slager, S., Olson, J.E., Radice, P., Peterlongo, P., Manoukian, S., Barile, M., Lambrechts, D., Hatse, S., Dieudonne, A.S., Christiaens, M.R., Chenevix-Trench, G., Beesley, J., Chen, X., Mannermaa, A., Kosma, V.-M., Hartikainen, J.M., Soini, Y., Easton, D.F., Couch, F.J. and Borrensen-Dale, A.-L. 2012. 19p13.1 is a triple negative-specific breast cancer susceptibility locus. Cancer Research. 72 (7), pp. 1795-1803. https://doi.org/10.1158/0008-5472.CAN-11-3364

A genome blogger manifesto
Corpas, M. 2012. A genome blogger manifesto. GigaScience. 1 (1) 15. https://doi.org/10.1186/2047-217x-1-15

A family experience of personal genomics
Corpas, M. 2012. A family experience of personal genomics. Journal of Genetic Counseling. 21 (3), pp. 386-391. https://doi.org/10.1007/s10897-011-9473-7

How not to be a bioinformatician
Corpas, M., Fatumo, S. and Schneider, R. 2012. How not to be a bioinformatician. Source Code for Biology and Medicine. 7 3. https://doi.org/10.1186/1751-0473-7-3

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
Swaminathan, G.J., Bragin, E., Chatzimichali, E.A., Corpas, M., Bevan, A.P., Wright, C.F., Carter, N.P., Hurles, M.E. and Firth, H.V. 2012. DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Human Molecular Genetics. 21 (R1), pp. R37-R44. https://doi.org/10.1093/hmg/dds362

Interpretation of genomic copy number variants using DECIPHER
Corpas, M., Bragin, E., Clayton, S., Bevan, P. and Firth, H.V. 2012. Interpretation of genomic copy number variants using DECIPHER. Current Protocols in Human Genetics. Chapter 8:Unit 8.14. https://doi.org/10.1002/0471142905.hg0814s72

Spanish cuts: more economic damage.
Corpas, M. 2012. Spanish cuts: more economic damage. Nature. 487 38. https://doi.org/10.1038/487038d

The lectin Helix pomatia agglutinin recognises O-GlcNAc containing glycoproteins in human breast cancer
Rambaruth, N.D.S., Greenwell, P. and Dwek, M. 2012. The lectin Helix pomatia agglutinin recognises O-GlcNAc containing glycoproteins in human breast cancer. Glycobiology. 22 (6), pp. 839-848. https://doi.org/10.1093/glycob/cws051

Functionalization of single-walled carbon nanotubes and their binding to cancer cells.
Madani, S.Y., Tan, A., Dwek, M. and Seifalian, A.M. 2012. Functionalization of single-walled carbon nanotubes and their binding to cancer cells. International Journal of Nanomedicine. 2012 (7), pp. 905-914. https://doi.org/10.2147/ijn.s25035

Lectin array based strategies for identifying metastasis-associated changes in glycosylation
Fry, S., Afrough, B., Leathem, A. and Dwek, M. 2012. Lectin array based strategies for identifying metastasis-associated changes in glycosylation. Methods in Molecular Biology. 878, pp. 267-272. https://doi.org/10.1007/978-1-61779-854-2_18

2DE- based proteomics for the analysis of metastasis associated proteins
Dwek, M. and Peiris, D. 2012. 2DE- based proteomics for the analysis of metastasis associated proteins. Methods in Molecular Biology. 878, pp. 111-120. https://doi.org/10.1007/978-1-61779-854-2_7

A novel approach to determining the affinity of protein-carbohydrate interactions employing adherent cancer cells grown on a biosensor surface
Peiris, D., Markiv, A., Curley, G.P. and Dwek, M. 2012. A novel approach to determining the affinity of protein-carbohydrate interactions employing adherent cancer cells grown on a biosensor surface. Biosensors and Bioelectronics. 35 (1), pp. 160-166. https://doi.org/10.1016/j.bios.2012.02.037

Beyond the genome and proteome: targeting protein modifications in cancer
Markiv, A., Rambaruth, N.D.S. and Dwek, M. 2012. Beyond the genome and proteome: targeting protein modifications in cancer. Current Opinions in Pharmacology.. 12 (4), pp. 408-413. https://doi.org/10.1016/j.coph.2012.04.003

Association of serum anti-Tn IgM with breast cancer recurrence
Afrough, B., Fry, S., Lomax-Browne, H., Perkins, A., Leathem, A. and Dwek, M. 2011. Association of serum anti-Tn IgM with breast cancer recurrence. Immunology. 135 (Supp.1), p. 153. https://doi.org/10.1111/j.1365-2567.2011.03534.x

A physiological approach to assess the affinity of lectin carbohydrate interactions using cancer cells immobilised on a biosensor surface
Peiris, D., Markiv, A. and Dwek, M. 2011. A physiological approach to assess the affinity of lectin carbohydrate interactions using cancer cells immobilised on a biosensor surface. Glycobiology. 21 (11), p. 1523. https://doi.org/10.1093/glycob/cwr126

Identification, cloning and characterization of two N-acetylgalactosamine binding lectins from the albumen gland of Helix pomatia
Markiv, A., Peiris, D., Curley, G.P., Odell, M. and Dwek, M. 2011. Identification, cloning and characterization of two N-acetylgalactosamine binding lectins from the albumen gland of Helix pomatia. Journal of Biological Chemistry. 286 (23), pp. 20260-20266. https://doi.org/10.1074/jbc.M110.184515

Bamako 2009 Conference on the Bioinformatics of Infectious Diseases
Corpas, M., Doumbia, S., Gascuel, O. and Mulder, N. 2011. Bamako 2009 Conference on the Bioinformatics of Infectious Diseases. Infection, Genetics and Evolution. 11 (4), pp. 695-697. https://doi.org/10.1016/j.meegid.2011.02.012

myKaryoView: a light-weight client for visualization of genomic data
Jimenez, R.C., Salazar, G.A., Gel, B., Dopazo, J., Mulder, N. and Corpas, M. 2011. myKaryoView: a light-weight client for visualization of genomic data. PLoS ONE. 6 (10) e26345. https://doi.org/10.1371/journal.pone.0026345

Abstract B76 - An overview of the DietCompLyf study - a multicentre UK study to evaluate the role of diet, lifestyle and complementary medicine use on breast cancer recurrence
Swann, R., Perkins, A., Dahya, P., Woodside, J., Dutton, S., Robertson, C.E., Velentzis, L.S., Leathem, A. and Dwek, M. 2011. Abstract B76 - An overview of the DietCompLyf study - a multicentre UK study to evaluate the role of diet, lifestyle and complementary medicine use on breast cancer recurrence. National Cancer Research Institute (NCRI) Cancer Conference 2011. BT Convention Centre, Liverpool, UK 06 - 09 Nov 2011

Separation and characterization of different isoform populations of PSA in seminal fluid
Lines, A., Clarke, O., Dwek, M., Packer, S. and Edwards, R. 2011. Separation and characterization of different isoform populations of PSA in seminal fluid. American Association for Clinical Chemists Meeting. Atlanta, Georgia 15 - 19 Jul 2011

Abstract LB14 - Lectin microarray profilling of metastatic breast cancers
Fry, S., Afrough, B., Lomax-Browne, H., Timms, J.F., Velentzis, L.S. and Dwek, M. 2011. Abstract LB14 - Lectin microarray profilling of metastatic breast cancers. National Cancer Research Institute (NCRI) Cancer Conference 2011. BT Convention Centre, Liverpool, UK 06 - 09 Nov 2011

Cell surface glycan-lectin interactions in tumor metastasis
Rambaruth, N.D.S. and Dwek, M. 2011. Cell surface glycan-lectin interactions in tumor metastasis. Acta Histochemica. 113 (6), pp. 591-600. https://doi.org/10.1016/j.acthis.2011.03.001

Breast cancer invasion is mediated by beta-N-acetylglucosaminidase (beta-NAG) and associated with a dysregulation in the secretory pathway of cancer cells
Ramessur, K.T., Greenwell, P., Nash, R. and Dwek, M. 2010. Breast cancer invasion is mediated by beta-N-acetylglucosaminidase (beta-NAG) and associated with a dysregulation in the secretory pathway of cancer cells. British Journal of Biomedical Science. 67 (4), pp. 189-196.

Revealing real-time cell surface interaction analysis: a focus on lectin - cell glycan interactions
Dwek, M. 2010. Revealing real-time cell surface interaction analysis: a focus on lectin - cell glycan interactions. Discovery-Summit. Majestic Barrière Hotel, Cannes, France 22nd – 24th March 2010

Revealing real-time cell surface interaction analysis: a focus on lectin - cell glycan interactions
Dwek, M. 2010. Revealing real-time cell surface interaction analysis: a focus on lectin - cell glycan interactions. Informa Life Sciences 6th Annual Next Generation Protein Therapeutics. Sheraton Brussels Hotel, Belgium 28th – 29th September 2010

GalNAc-recognition by lectins for cancer prognostication
Dwek, M. 2010. GalNAc-recognition by lectins for cancer prognostication. 105th Annual Meeting of the Anatomische Gesellschaft. Hamburg, Germany 29th March 2010

An evaluation of breast cancer cell line sialyltransferase expression levels and assessment of possible correlation with HPA lectin binding profiles
Blaszczak, E., Greenwell, G. and Dwek, M. 2010. An evaluation of breast cancer cell line sialyltransferase expression levels and assessment of possible correlation with HPA lectin binding profiles. Horizons in Molecular Biology: International PhD Student Symposium. Göttingen, Germany 27 - 30 Sep 2010

A sensitive assay to measure biomarker glycosylation demonstrates increased fucosylation of prostate specific antigen (PSA) in patients with prostate cancer compared with benign prostatic hyperplasia
Dwek, M., Jenks, A. and Leathem, A. 2010. A sensitive assay to measure biomarker glycosylation demonstrates increased fucosylation of prostate specific antigen (PSA) in patients with prostate cancer compared with benign prostatic hyperplasia. Clinica Chimica Acta. 411 (23-24), pp. 1935-1939. https://doi.org/10.1016/j.cca.2010.08.009

Cancer prognostication using a recombinant form of the lectin from Helix pomatia agglutinin
Dwek, M., Markiv, A. and Odell, M. 2009. Cancer prognostication using a recombinant form of the lectin from Helix pomatia agglutinin. Glycobiology. 19 (11), p. 1318. https://doi.org/10.1093/glycob/cwp135

UEA-1 enables discrimination between prostate specific antigen from patients with prostate cancer and benign prostatic hyperplasia
Dwek, M., Jenks, A. and Leathem, A. 2009. UEA-1 enables discrimination between prostate specific antigen from patients with prostate cancer and benign prostatic hyperplasia. Glycobiology. 19 (11), p. 1318. https://doi.org/10.1093/glycob/cwp135

DECIPHER: Shedding Light on Chromosomal Imbalance and Phenotype Interpretation
Corpas, M., Richards, S., Bevan, P., van Vooren, S., Pettett, R., Firth, H. and Carter, N. 2009. DECIPHER: Shedding Light on Chromosomal Imbalance and Phenotype Interpretation. 7th European Cytogenetics Conference. Stockholm, Sweden 04 - 07 Jul 2009

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Firth, H.V., Richards, S.M., Bevan, A.P., Clayton, S., Corpas, M., Rajan, D., Van Vooren, S., Moreau, Y., Pettett, R.M. and Carter, N.P. 2009. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. The American Journal of Human Genetics. 84 (4), pp. P524-533. https://doi.org/10.1016/j.ajhg.2009.03.010

ENFIN - An integrative structure for systems biology
Reisinger, F., Corpas, M., Hancock, J., Hermjakob, H., Birney, E. and Kahlem, P. 2008. ENFIN - An integrative structure for systems biology. in: International Workshop on Data Integration in the Life Sciences Springer. pp. 132-143

Ten simple rules for organizing a scientific meeting.
Corpas, M., Gehlenborg, N., Janga, S.C. and Bourne, P.E. 2008. Ten simple rules for organizing a scientific meeting. PLOS Computational Biology. 4 (6) e1000080. https://doi.org/10.1371/journal.pcbi.1000080

Colorectal cancer – a sticky problem
Dwek, M. 2007. Colorectal cancer – a sticky problem. Oncology News. 2 (3), pp. 19-21.

Highlights from the Third International Society for Computational Biology Student Council Symposium at the Fifteenth Annual International Conference on Intelligent Systems for Molecular Biology
Gehlenborg, N., Corpas, M. and Janga, S.C. 2007. Highlights from the Third International Society for Computational Biology Student Council Symposium at the Fifteenth Annual International Conference on Intelligent Systems for Molecular Biology. BMC Bioinformatics. 8 (Supplement 8) I1. https://doi.org/10.1186/1471-2105-8-s8-i1

Folding patterns in protein sequences
Corpas, M. 2007. Folding patterns in protein sequences. PhD thesis University of Manchester https://doi.org/10.6084/m9.figshare.964811.v1

PFF--an integrated database of residues and fragments critical for protein folding
Corpas, M., Sinnott, J., Thorne, D., Pettifer, S., Attwood , T. and the PFF consortium 2007. PFF--an integrated database of residues and fragments critical for protein folding. BMC Systems Biology. 1 P48. https://doi.org/10.1186/1752-0509-1-S1-P48

Predictors of axillary lymph node metastasis in breast cancer: a systematic review
Patani, N.R., Dwek, M. and Douek, M. 2007. Predictors of axillary lymph node metastasis in breast cancer: a systematic review. European Journal of Surgical Oncology. 33 (4), pp. 409-419. https://doi.org/10.1016/j.ejso.2006.09.003

Identification and elimination of false-positives in an ELISA-based system for qualitative assessment of glycoconjugate binding using a selection of plant lectins.
Afrough, B., Dwek, M. and Greenwell, P. 2007. Identification and elimination of false-positives in an ELISA-based system for qualitative assessment of glycoconjugate binding using a selection of plant lectins. BioTechniques. 43 (4), pp. 458-462. https://doi.org/10.2144/000112554

Proteome analysis of metastatic colorectal cancer cells recognized by the lectin Helix pomatia agglutinin (HPA)
Saint-Guirons, J., Zeqiraj, E., Schumacher, U., Greenwell, P. and Dwek, M. 2007. Proteome analysis of metastatic colorectal cancer cells recognized by the lectin Helix pomatia agglutinin (HPA). Proteomics. 7 (22), pp. 4082-4089. https://doi.org/10.1002/pmic.200700434

Breast cancer proteomics using two-dimensional electrophoresis: studying the breast cancer proteome
Dwek, M.V. and Rawlings, S.L. 2006. Breast cancer proteomics using two-dimensional electrophoresis: studying the breast cancer proteome. in: Brooks, S. and Harris, A. (ed.) Breast Cancer Research Protocols New Jersey, USA Humana Press. pp. 231-243

A proteomic approach to identify the integrins α 6 and α V as HPA binding partners in the metastatic colorectal cancer cell line HT29
Saint-Guirons, J., Zeqiraj, E., Greenwell, P. and Dwek, M. 2006. A proteomic approach to identify the integrins α 6 and α V as HPA binding partners in the metastatic colorectal cancer cell line HT29. Molecular and Cellular Proteomics. 5 (10 (supplement)), p. S148.

Scientists & societies: Community outreach
Corpas, M. 2005. Scientists & societies: Community outreach. Nature. 436, p. 1204. https://doi.org/10.1038/nj7054-1204b

Confocal microscopy for the identification of glycosylation changes associated with metastatic colorectal cancer
Zeqiraj, E., Saint-Guirons, J., Kerrigan, M.J.P. and Dwek, M. 2005. Confocal microscopy for the identification of glycosylation changes associated with metastatic colorectal cancer. The Molecular Biology of Colorectal Cancer. UBHT Education Centre, Bristol, UK 10 - 11 Mar 2005

The metabolic role of methymalonyl CoA mutase in Escherichia coli
Kannan, S.M., Dwek, M., Bucke, C. and Roy, I. 2005. The metabolic role of methymalonyl CoA mutase in Escherichia coli. Proceedings of Viteomics: structure and function of vitamins and cofactors. Cambridge, UK 2005

Structure/function of N-glycans
Dwek, M. 2005. Structure/function of N-glycans. in: Redei, G.P. (ed.) Encyclopedic dictionary of genetics, genomics, and proteomics. 2nd edition Hoboken, USA Wiley.

Glycoproteomics
Dwek, M. 2005. Glycoproteomics. in: Redei, G.P. (ed.) Encyclopedic dictionary of genetics, genomics, and proteomics. 2nd edition Hoboken, USA Wiley.

Harnessing changes in cellular glycosylation in new cancer treatment strategies.
Dwek, M.V. and Brooks, S.A. 2004. Harnessing changes in cellular glycosylation in new cancer treatment strategies. Current Cancer Drug Targets. 4 (5), pp. 425-442. https://doi.org/10.2174/1568009043332899

Integrating simulation packages via systems biology mark-up language
Corpas, M. 2003. Integrating simulation packages via systems biology mark-up language. in: International Conference on Computational Methods in Systems Biology Springer.

Glycoproteomics
Dwek, M. and Mills, P. 2003. Glycoproteomics. in: Redei, G.P. (ed.) Encyclopedic dictionary of genetics, genomics, and proteomics Chichester, UK Wiley.

Structure/function of N-glycans
Brooks, S. and Dwek, M. 2003. Structure/function of N-glycans. in: Redei, G.P. (ed.) Encyclopedic dictionary of genetics, genomics, and proteomics Chichester, UK Wiley.

Proteome analysis enables separate clustering of normal breast, benign breast and breast cancer tissues
Dwek, M. and Alaiya, A.A. 2003. Proteome analysis enables separate clustering of normal breast, benign breast and breast cancer tissues. British Journal of Cancer. 89 (2), pp. 305-307. https://doi.org/10.1038/sj.bjc.6601008

Current perspectives in cancer proteomics
Dwek, M.V. and Rawlings, S.L. 2002. Current perspectives in cancer proteomics. Molecular Biotechnology. 22 (2), pp. 139-152. https://doi.org/10.1385/mb:22:2:139

Functional and molecular glycobiology
Brooks, S., Dwek, M. and Schumacher, U. 2002. Functional and molecular glycobiology. Oxford, UK BIOS Scientific.

Use of proteomic methodology for the characterization of human milk fat globular membrane proteins
Charlwood, J., Hanrahan, S., Tyldesley, R., Langridge, J., Dwek, M. and Camilleri, P. 2002. Use of proteomic methodology for the characterization of human milk fat globular membrane proteins. Analytical Biochemistry. 301 (2), pp. 314-324. https://doi.org/10.1006/abio.2001.5498

Helix pomatia agglutinin lectin-binding oligosaccharides of aggressive breast cancer.
Dwek, M., Ross, H.A., Streets, A.J., Brooks, S.A., Adam, E., Titcomb, A., Woodside, J.V., Schumacher, U. and Leathem, A.J. 2001. Helix pomatia agglutinin lectin-binding oligosaccharides of aggressive breast cancer. International Journal of Cancer. 95 (2), pp. 79-85. https://doi.org/10.1002/1097-0215(20010320)95:2<79::aid-ijc1014>3.0.co;2-e

Proteome and glycosylation mapping identifies post-translational modifications associated with aggressive breast cancer.
Dwek, M.V., Ross, H.A. and Leathem, A.J. 2001. Proteome and glycosylation mapping identifies post-translational modifications associated with aggressive breast cancer. Proteomics. 1 (6), pp. 756-763. https://doi.org/10.1002/1615-9861(200106)1:6<756::aid-prot756>3.0.co;2-x

A detailed analysis of neutral and acidic carbohydrates in human milk
Charlwood, J., Tolson, D., Dwek, M. and Camilleri, P. 1999. A detailed analysis of neutral and acidic carbohydrates in human milk. Analytical Biochemistry. 273 (2), pp. 261-277. https://doi.org/10.1006/abio.1999.4232

Breast cancer progression is associated with a reduction in the diversity of sialylated and neutral oligosaccharides.
Dwek, M.V., Lacey, H.A. and Leathem, A.J. 1998. Breast cancer progression is associated with a reduction in the diversity of sialylated and neutral oligosaccharides. Clinica Chimica Acta. 271 (2), pp. 191-202. https://doi.org/10.1016/s0009-8981(97)00258-1

Release and analysis of polypeptides and glycopolypeptides from formalin-fixed, paraffin wax-embedded tissue
Brooks, S.A., Dwek, M.V. and Leathem, A.J. 1998. Release and analysis of polypeptides and glycopolypeptides from formalin-fixed, paraffin wax-embedded tissue. The Histochemical journal. 30, pp. 609-615. https://doi.org/10.1023/a:1003222931605

Identification, purification and analysis of a 55 kDa lectin binding glycoprotein present in breast cancer tissue.
Streets, A.J., Brooks, S.A., Dwek, M.V. and Leathem, A.J. 1996. Identification, purification and analysis of a 55 kDa lectin binding glycoprotein present in breast cancer tissue. Clinica Chimica Acta. 254 (1), pp. 47-61. https://doi.org/10.1016/0009-8981(96)06363-2

Oligosaccharide release from frozen and paraffin-wax-embedded archival tissues.
Dwek, M.V., Brooks, S.A., Streets, A.J., Harvey, D.J. and Leathem, A.J. 1996. Oligosaccharide release from frozen and paraffin-wax-embedded archival tissues. Analytical Biochemistry. 242 (1), pp. 8-14. https://doi.org/10.1006/abio.1996.0420

Altered expression of N-acetyl galactosamine glycoproteins by breast cancers.
Brooks, S.A., Leathem, A.J. and Dwek, M.V. 1994. Altered expression of N-acetyl galactosamine glycoproteins by breast cancers. Biochemical Society Transactions. 22 (2), p. 95S. https://doi.org/10.1042/bst022095s

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