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2020 Journal Article Using whole-genome sequencing data to derive the homologous recombination deficiency scoresde Luca, Xavier M., Newell, Felicity, Kazakoff, Stephen H., Hartel, Gunter, McCart Reed, Amy E., Holmes, Oliver, Xu, Qinying, Wood, Scott, Leonard, Conrad, Pearson, John V., Lakhani, Sunil R., Waddell, Nicola, Nones, Katia and Simpson, Peter T. (2020). Using whole-genome sequencing data to derive the homologous recombination deficiency scores. npj Breast Cancer, 6 (1) 33, 33. doi: 10.1038/s41523-020-0172-0 |
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2020 Journal Article Estimating the costs of genomic sequencing in cancer controlGordon, Louisa G., White, Nicole M., Elliott, Thomas M., Nones, Katia, Beckhouse, Anthony G., Rodriguez-Acevedo, Astrid J., Webb, Penelope M., Lee, Xing J., Graves, Nicholas and Schofield, Deborah J. (2020). Estimating the costs of genomic sequencing in cancer control. BMC Health Services Research, 20 (1) 492, 492. doi: 10.1186/s12913-020-05318-y |
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2020 Journal Article Butler enables rapid cloud-based analysis of thousands of human genomesYakneen, Sergei, Waszak, Sebastian M., Gertz, Michael, Korbel, Jan O., Aminou, Brice, Bartolome, Javier, Boroevich, Keith A., Boyce, Rich, Brooks, Angela N., Buchanan, Alex, Buchhalter, Ivo, Butler, Adam P., Byrne, Niall J., Cafferkey, Andy, Campbell, Peter J., Chen, Zhaohong, Cho, Sunghoon, Choi, Wan, Clapham, Peter, Davis-Dusenbery, Brandi N., De La Vega, Francisco M., Demeulemeester, Jonas, Dow, Michelle T., Dursi, Lewis Jonathan, Eils, Juergen, Eils, Roland, Ellrott, Kyle, Farcas, Claudiu, Favero, Francesco ... von Mering, Christian (2020). Butler enables rapid cloud-based analysis of thousands of human genomes. Nature Biotechnology, 38 (3), 288-292. doi: 10.1038/s41587-019-0360-3 |
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2020 Journal Article Pan-cancer analysis of whole genomesCampbell, Peter J., Getz, Gad, Korbel, Jan O., Stuart, Joshua M., Jennings, Jennifer L., Stein, Lincoln D., Perry, Marc D., Nahal-Bose, Hardeep K., Ouellette, B. F. Francis, Li, Constance H., Rheinbay, Esther, Nielsen, G. Petur, Sgroi, Dennis C., Wu, Chin-Lee, Faquin, William C., Deshpande, Vikram, Boutros, Paul C., Lazar, Alexander J., Hoadley, Katherine A., Louis, David N., Dursi, L. Jonathan, Yung, Christina K., Bailey, Matthew H., Saksena, Gordon, Raine, Keiran M., Buchhalter, Ivo, Kleinheinz, Kortine, Schlesner, Matthias, Zhang, Junjun ... Hamdy, Freddie C. (2020). Pan-cancer analysis of whole genomes. Nature, 578 (7793), 82-93. doi: 10.1038/s41586-020-1969-6 |
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2020 Journal Article The repertoire of mutational signatures in human cancerAlexandrov, Ludmil B., Kim, Jaegil, Haradhvala, Nicholas J., Mi, Ni Huang, Ng, Alvin Wei Tian, Yang, Wu, Boot, Arnoud, Covington, Kyle R., Gordenin, Dmitry A., Bergstrom, Erik N., Ashiqul Islam, S. M., Lopez-Bigas, Nuria, Klimczak, Leszek J., McPherson, John R., Morganella, Sandro, Sabarinathan, Radhakrishnan, Wheeler, David A., Mustonen, Ville, Getz, Gad, Rozen, Steven G., Stratton, Michael R., Boutros, Paul, Chan, Kin, Fujimoto, Akihiro, Kazanov, Marat, Lawrence, Michael, Martincorena, Iñigo, Nakagawa, Hidewaki, Polak, Paz ... von Mering, Christian (2020). The repertoire of mutational signatures in human cancer. Nature, 578 (7793), 94-101. doi: 10.1038/s41586-020-1943-3 |
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2020 Journal Article Genomic basis for RNA alterations in cancerCalabrese, Claudia, Davidson, Natalie R., Demircioğlu, Deniz, Fonseca, Nuno A., He, Yao, Kahles, André, Lehmann, Kjong-Van, Liu, Fenglin, Shiraishi, Yuichi, Soulette, Cameron M., Urban, Lara, Greger, Liliana, Li, Siliang, Liu, Dongbing, Perry, Marc D., Xiang, Qian, Zhang, Fan, Zhang, Junjun, Bailey, Peter, Erkek, Serap, Hoadley, Katherine A., Hou, Yong, Huska, Matthew R., Kilpinen, Helena, Korbel, Jan O., Marin, Maximillian G., Markowski, Julia, Nandi, Tannistha, Pan-Hammarström, Qiang ... von Mering, Christian (2020). Genomic basis for RNA alterations in cancer. Nature, 578 (7793), 129-136. doi: 10.1038/s41586-020-1970-0 |
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2020 Journal Article The evolutionary history of 2,658 cancersGerstung, Moritz, Jolly, Clemency, Leshchiner, Ignaty, Dentro, Stefan C., Gonzalez, Santiago, Rosebrock, Daniel, Mitchell, Thomas J., Rubanova, Yulia, Anur, Pavana, Kaixian, Yu, Tarabichi, Maxime, Deshwar, Amit, Wintersinger, Jeff, Kleinheinz, Kortine, Vázquez-García, Ignacio, Haase, Kerstin, Jerman, Lara, Sengupta, Subhajit, Macintyre, Geoff, Malikic, Salem, Donmez, Nilgun, Livitz, Dimitri G., Cmero, Marek, Demeulemeester, Jonas, Schumacher, Steven, Fan, Yu, Yao, Xiaotong, Lee, Juhee, Schlesner, Matthias ... von Mering, Christian (2020). The evolutionary history of 2,658 cancers. Nature, 578 (7793), 122-128. doi: 10.1038/s41586-019-1907-7 |
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2020 Journal Article Comprehensive molecular characterization of mitochondrial genomes in human cancersYuan, Yuan, Ju, Young Seok, Kim, Youngwook, Li, Jun, Wang, Yumeng, Yoon, Christopher J., Yang, Yang, Martincorena, Inigo, Creighton, Chad J., Weinstein, John N., Xu, Yanxun, Han, Leng, Kim, Hyung-Lae, Nakagawa, Hidewaki, Park, Keunchil, Campbell, Peter J., Liang, Han, Aaltonen, Lauri A., Abascal, Federico, Abeshouse, Adam, Aburatani, Hiroyuki, Adams, David J., Agrawal, Nishant, Ahn, Keun Soo, Ahn, Sung-Min, Aikata, Hiroshi, Akbani, Rehan, Akdemir, Kadir C., Al-Ahmadie, Hikmat ... von Mering, Christian (2020). Comprehensive molecular characterization of mitochondrial genomes in human cancers. Nature Genetics, 52 (3), 342-352. doi: 10.1038/s41588-019-0557-x |
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2019 Journal Article Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targetsNewell, Felicity, Kong, Yan, Wilmott, James S., Johansson, Peter A., Ferguson, Peter M., Cui, Chuanliang, Li, Zhongwu, Kazakoff, Stephen H., Burke, Hazel, Dodds, Tristan J., Patch, Ann-Marie, Nones, Katia, Tembe, Varsha, Shang, Ping, van der Weyden, Louise, Wong, Kim, Holmes, Oliver, Lo, Serigne, Leonard, Conrad, Wood, Scott, Xu, Qinying, Rawson, Robert V., Mukhopadhyay, Pamela, Dummer, Reinhard, Levesque, Mitchell P., Jönsson, Göran, Wang, Xuan, Yeh, Iwei, Wu, Hong ... Scolyer, Richard A. (2019). Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets. Nature Communications, 10 (1) 3163. doi: 10.1038/s41467-019-11107-x |
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2019 Journal Article Mechanisms of genomic instability in breast cancerDuijf, Pascal H.G., Nanayakkara, Devathri, Nones, K., Srihari, Sriganesh, Kalimutho, Murugan and Khanna, Kum Kum (2019). Mechanisms of genomic instability in breast cancer. Trends in Molecular Medicine, 25 (7), 595-611. doi: 10.1016/j.molmed.2019.04.004 |
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2019 Journal Article Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancersNones, K., Johnson, J., Newell, F., Patch, A. M., Thorne, H., Kazakoff, S. H., de Luca, X. M., Parsons, M. T., Ferguson, K., Reid, L. E., McCart Reed, A. E., Srihari, S., Lakis, V., Davidson, A. L., Mukhopadhyay, P., Holmes, O., Xu, Q., Wood, S., Leonard, C., The Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), The Australian Breast Cancer Tissue Bank (ABCTB), The Brisbane Breast Bank (BBB), Beesley, J., Harris, J. M., Barnes, D., Degasperi, A., Ragan, M. A., Spurdle, A. B., Khanna, K. K. ... Simpson, P. T. (2019). Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers. Annals of Oncology, 30 (7) mdz132, 1071-1079. doi: 10.1093/annonc/mdz132 |
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2019 Journal Article Integrative genome-scale DNA methylation analysis of a large and unselected cohort reveals five distinct subtypes of colorectal adenocarcinomasFennell, Lochlan, Dumenil, Troy, Wockner, Leesa, Hartel, Gunter, Nones, Katia, Bond, Catherine, Borowsky, Jennifer, Liu, Cheng, McKeone, Diane, Bowdler, Lisa, Montgomery, Grant, Klein, Kerenaftali, Hoffmann, Isabell, Patch, Ann-Marie, Kazakoff, Stephen, Pearson, John, Waddell, Nicola, Wirapati, Pratyaksha, Lochhead, Paul, Imamura, Yu, Ogino, Shuji, Shao, Renfu, Tejpar, Sabine, Leggett, Barbara and Whitehall, Vicki (2019). Integrative genome-scale DNA methylation analysis of a large and unselected cohort reveals five distinct subtypes of colorectal adenocarcinomas. Cellular and Molecular Gastroenterology and Hepatology, 8 (2), 269-290. doi: 10.1016/j.jcmgh.2019.04.002 |
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2019 Journal Article Patterns of genomic instability in breast cancerKalimutho, Murugan, Nones, Katia, Srihari, Sriganesh, Duijf, Pascal H.G., Waddell, Nicola and Khanna, Kum Kum (2019). Patterns of genomic instability in breast cancer. Trends in Pharmacological Sciences, 40 (3), 198-211. doi: 10.1016/j.tips.2019.01.005 |
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2019 Journal Article Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibilityWilmott, James S., Johansson, Peter A., Newell, Felicity, Waddell, Nicola, Ferguson, Peter, Quek, Camelia, Patch, Ann-Marie, Nones, Katia, Shang, Ping, Pritchard, Antonia L., Kazakoff, Stephen, Holmes, Oliver, Leonard, Conrad, Wood, Scott, Xu, Qinying, Saw, Robyn P. M., Spillane, Andrew J., Stretch, Jonathan R., Shannon, Kerwin F., Kefford, Richard F., Menzies, Alexander M., Long, Georgina V., Thompson, John F., Pearson, John V., Mann, Graham J., Hayward, Nicholas K. and Scolyer, Richard A. (2019). Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility. International Journal of Cancer, 144 (5), 1049-1060. doi: 10.1002/ijc.31791 |
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2019 Journal Article Diff-Quik cytology smears from endobronchial ultrasound transbronchial needle aspiration lymph node specimens as a source of DNA for next-generation sequencing instead of cell blocksFielding, David, Dalley, Andrew J., Bashirzadeh, Farzad, Singh, Mahendra, Nandakumar, Lakshmy, McCart Reed, Amy E., Black, Debra, Kazakoff, Stephen, Pearson, John V., Nones, Katia, Waddell, Nicola, Lakhani, Sunil R. and Simpson, Peter T. (2019). Diff-Quik cytology smears from endobronchial ultrasound transbronchial needle aspiration lymph node specimens as a source of DNA for next-generation sequencing instead of cell blocks. Respiration, 97 (6), 1-14. doi: 10.1159/000495661 |
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2019 Journal Article Complex structural rearrangements are present in high-grade dysplastic Barrett's oesophagus samplesNewell, Felicity, Patel, Kalpana, Gartside, Michael, Krause, Lutz, Brosda, Sandra, Aoude, Lauren G., Loffler, Kelly A., Bonazzi, Vanessa F., Patch, Ann-Marie, Kazakoff, Stephen H., Holmes, Oliver, Xu, Qinying, Wood, Scott, Leonard, Conrad, Lampe, Guy, Lord, Reginald V., Whiteman, David C., Pearson, John V., Nones, Katia, Waddell, Nicola and Barbour, Andrew P. (2019). Complex structural rearrangements are present in high-grade dysplastic Barrett's oesophagus samples. BMC Medical Genomics, 12 (1) 31, 31. doi: 10.1186/s12920-019-0476-9 |
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2019 Conference Publication Dissecting the heterogeneity of metaplastic breast cancer: a morphological, immunohistochemical and genomic analysis of a large cohortReed, A. E. McCart, Kalaw, E., Nones, K., Bettington, M., Lim, M., Bennett, J., Johnstone, K., Kutasovic, J. R., Kazakoff, S., Xu, Q. C., Saunus, J. M., Reid, L. E., Black, D., Niland, C., Ferguson, K., Gresshoff, I., Raghavendra, A., Liu, J. C., Kalinowski, L., Reid, A. S., Davidson, M., Pearson, J. V., Yamaguchi, R., Harris, G., Tse, G., Papadimos, D., Pathmanathan, R., Pathmanathan, N., Tan, P. H. ... Lakhani, S. R. (2019). Dissecting the heterogeneity of metaplastic breast cancer: a morphological, immunohistochemical and genomic analysis of a large cohort. San Antonio Breast Cancer Symposium, San Antonio, TX, United States, 4-8 December 2018. Philadelphia, PA, United States: American Association for Cancer Research. doi: 10.1158/1538-7445.SABCS18-P3-08-03 |
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2019 Journal Article Phenotypic and molecular dissection of Metaplastic Breast Cancer and the prognostic implicationsMcCart Reed, Amy Ellen, Kalaw, Emarene, Nones, Katia, Bettington, Mark, Lim, Malcolm, Bennett, James, Johnstone, Kate, Kutasovic, Jamie Rose, Saunus, Jodi Marie, Kazakoff, Stephen, Xu, Qinying, Wood, Scott, Holmes, Oliver, Leonard, Conrad, Reid, Lynne Estelle, Black, Debra, Niland, Colleen, Ferguson, Kaltin, Gresshoff, Irma, Raghavendra, Ashwini, Harvey, Kate, Cooper, Caroline, Liu, Cheng, Kalinowski, Lauren, Reid, Andrew Scott, Davidson, Morgan, Pearson, John V, Pathmanathan, Nirmala, Tse, Gary ... Lakhani, Sunil R. (2019). Phenotypic and molecular dissection of Metaplastic Breast Cancer and the prognostic implications. Journal of Pathology, 247 (2), 214-227. doi: 10.1002/path.5184 |
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2019 Journal Article Intratumoural heterogeneity underlies distinct therapy responses and treatment resistance in glioblastomaAkgül, Seçkin, Patch, Ann-Marie, D’souza, Rochelle C. J., Mukhopadhyay, Pamela, Nones, Katia, Kempe, Sarah, Kazakoff, Stephen H., Jeffree, Rosalind L., Stringer, Brett W., Pearson, John V., Waddell, Nicola and Day, Bryan W. (2019). Intratumoural heterogeneity underlies distinct therapy responses and treatment resistance in glioblastoma. Cancers, 11 (2) 190, 190. doi: 10.3390/cancers11020190 |
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2019 Conference Publication Using whole genome sequencing and somatic mutation signatures to unravel insight into familial breast cancer aetiologySimpson, P., Nones, K., Johnson, J., Newell, F., Patch, A-M, Thorne, H., Kazakoff, S., De Luca, X., Parsons, M., Ferguson, K., Reid, L., Reed, A. McCart, Srihari, S., Lakis, V., Davidson, A., Mukhopadhyay, P., Holmes, O., Xu, Q., Wood, S., Leonard, C., Beasley, J., Degasperi, A., Nik-Zainal, S., Ragan, M., Spurdle, A., Khanna, K. K., Lakhani, S., Pearson, J., Chenevix-Trench, G. and Waddell, N. (2019). Using whole genome sequencing and somatic mutation signatures to unravel insight into familial breast cancer aetiology. San Antonio Breast Cancer Symposium, San Antonio, TX, United States, 4-8 December 2018. Philadelphia, PA, United States: American Association for Cancer Research. doi: 10.1158/1538-7445.SABCS18-P5-10-01 |
