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2022

Journal Article

qmotif: determination of telomere content from whole-genome sequence data

Holmes, Oliver, Nones, Katia, Tang, Yue Hang, Loffler, Kelly A., Lee, Michael, Patch, Ann-Marie, Dagg, Rebecca A., Lau, Loretta M. S., Leonard, Conrad, Wood, Scott, Xu, Qinying, Pickett, Hilda A., Reddel, Roger R., Barbour, Andrew P., Grimmond, Sean M., Waddell, Nicola and Pearson, John V. (2022). qmotif: determination of telomere content from whole-genome sequence data. Bioinformatics Advances, 2 (1) vbac005, 1-3. doi: 10.1093/bioadv/vbac005

qmotif: determination of telomere content from whole-genome sequence data

2022

Journal Article

Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content

Ganesamoorthy, Devika, Robertson, Alan James, Chen, Wenhan, Hall, Michael B., Cao, Minh Duc, Ferguson, Kaltin, Lakhani, Sunil R., Nones, Katia, Simpson, Peter T. and Coin, Lachlan J. M. (2022). Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content. BMC Cancer, 22 (1) 85, 85. doi: 10.1186/s12885-021-09160-1

Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content

2022

Journal Article

Multiomic profiling of checkpoint inhibitor-treated melanoma: Identifying predictors of response and resistance, and markers of biological discordance

Newell, Felicity, Pires da Silva, Ines, Johansson, Peter A., Menzies, Alexander M., Wilmott, James S., Addala, Venkateswar, Carlino, Matteo S., Rizos, Helen, Nones, Katia, Edwards, Jarem J., Lakis, Vanessa, Kazakoff, Stephen H., Mukhopadhyay, Pamela, Ferguson, Peter M., Leonard, Conrad, Koufariotis, Lambros T., Wood, Scott, Blank, Christian U., Thompson, John F., Spillane, Andrew J., Saw, Robyn P.M., Shannon, Kerwin F., Pearson, John V., Mann, Graham J., Hayward, Nicholas K., Scolyer, Richard A., Waddell, Nicola and Long, Georgina V. (2022). Multiomic profiling of checkpoint inhibitor-treated melanoma: Identifying predictors of response and resistance, and markers of biological discordance. Cancer Cell, 40 (1), 88-102.e7. doi: 10.1016/j.ccell.2021.11.012

Multiomic profiling of checkpoint inhibitor-treated melanoma: Identifying predictors of response and resistance, and markers of biological discordance

2022

Journal Article

Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer

Bonazzi, Vanessa F., Kondrashova, Olga, Smith, Deborah, Nones, Katia, Sengal, Asmerom T., Ju, Robert, Packer, Leisl M., Koufariotis, Lambros T., Kazakoff, Stephen H., Davidson, Aimee L., Ramarao-Milne, Priya, Lakis, Vanessa, Newell, Felicity, Rogers, Rebecca, Davies, Claire, Nicklin, James, Garrett, Andrea, Chetty, Naven, Perrin, Lewis, Pearson, John V., Patch, Ann-Marie, Waddell, Nicola and Pollock, Pamela M. (2022). Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer. Genome Medicine, 14 (1) 3, 1-19. doi: 10.1186/s13073-021-00990-z

Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer

2022

Journal Article

Genomic and molecular analyses identify molecular subtypes of pancreatic cancer recurrence

Dreyer, Stephan B., Upstill-Goddard, Rosie, Legrini, Assya, Biankin, Andrew V., Allison, Sarah, Beraldi, Dario, Cameron, Euan, Chang, David K., Cooke, Susanna L., Cunningham, Richard, Dreyer, Stephan, Grimwood, Paul, Kelly, Shane, Marshall, John, McDade, Brian, Musgrove, Elizabeth A., Ramsay, Donna, Evers, Lisa, Rebus, Selma, Rahib, Lola, Serrels, Bryan, Jamieson, Nigel B., McKay, Colin J., Westwood, Paul, Williams, Nicola, Duthie, Fraser, Shen, William, Pea, Antonio, Johns, Amber L. ... Bassi, Claudio (2022). Genomic and molecular analyses identify molecular subtypes of pancreatic cancer recurrence. Gastroenterology, 162 (1), 320-324. doi: 10.1053/j.gastro.2021.09.022

Genomic and molecular analyses identify molecular subtypes of pancreatic cancer recurrence

2021

Journal Article

ROR1 and ROR2 expression in pancreatic cancer

Liu, Dongli, Sharbeen, George, Phillips, Phoebe, Johns, Amber L., Gill, Anthony J., Chantrill, Lorraine A., Timpson, Paul, Chou, Angela, Pajic, Marina, Dwarte, Tanya, Herrmann, David, Vennin, Claire, Cox, Thomas R., Pereira, Brooke, Ritchie, Shona, Reed, Daniel A., Chambers, Cecilia R., Metcalf, Xanthe, Nobis, Max, Waddell, Nicola, Pearson, John V., Patch, Ann-Marie, Nones, Katia, Newell, Felicity, Mukhopadhyay, Pamela, Addala, Venkateswar, Kazakoff, Stephen, Holmes, Oliver, Leonard, Conrad ... Ford, Caroline E. (2021). ROR1 and ROR2 expression in pancreatic cancer. BMC Cancer, 21 (1) 1199. doi: 10.1186/s12885-021-08952-9

ROR1 and ROR2 expression in pancreatic cancer

2021

Journal Article

DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association

Lakis, Vanessa, Lawlor, Rita T., Newell, Felicity, Patch, Ann-Marie, Mafficini, Andrea, Sadanandam, Anguraj, Koufariotis, Lambros T., Johnston, Rebecca L., Leonard, Conrad, Wood, Scott, Rusev, Borislav, Corbo, Vincenzo, Luchini, Claudio, Cingarlini, Sara, Landoni, Luca, Salvia, Roberto, Milella, Michele, Chang, David, Bailey, Peter, Jamieson, Nigel B., Duthie, Fraser, Gingras, Marie-Claude, Muzny, Donna M., Wheeler, David A., Gibbs, Richard A., Milione, Massimo, Chantrill, Lorraine A., Timpson, Paul, Chou, Angela ... Scarpa, Aldo (2021). DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association. Communications Biology, 4 (1) 155, 1-11. doi: 10.1038/s42003-020-01469-0

DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association

2021

Journal Article

Acquired RAD51C promoter methylation loss causes parp inhibitor resistance in high-grade serous ovarian carcinoma

Nesic, Ksenija, Kondrashova, Olga, Hurley, Rachel M., McGehee, Cordelia D., Vandenberg, Cassandra J., Ho, Gwo-Yaw, Lieschke, Elizabeth, Dall, Genevieve, Bound, Nirashaa, Shield-Artin, Kristy, Radke, Marc, Musafer, Ashan, Chai, Zi Qing, Ghamsari, Mohammad Reza Eftekhariyan, Harrell, Maria I., Kee, Damien, Olesen, Inger, McNally, Orla, Traficante, Nadia, Study, Australian Ovarian Cancer, DeFazio, Anna, Bowtell, David D.L., Swisher, Elizabeth M., Weroha, S. John, Nones, Katia, Waddell, Nicola, Kaufmann, Scott H., Dobrovic, Alexander, Wakefield, Matthew J. and Scott, Clare L. (2021). Acquired RAD51C promoter methylation loss causes parp inhibitor resistance in high-grade serous ovarian carcinoma. Cancer Research, 81 (18), 4709-4722. doi: 10.1158/0008-5472.can-21-0774

Acquired RAD51C promoter methylation loss causes parp inhibitor resistance in high-grade serous ovarian carcinoma

2021

Journal Article

Correction: McCart Reed et al. The Genomic Landscape of Lobular Breast Cancer. Cancers 2021, 13, 1950

McCart Reed, Amy E., Foong, Samuel, Kutasovic, Jamie R., Nones, Katia, Waddell, Nicola, Lakhani, Sunil R. and Simpson, Peter T. (2021). Correction: McCart Reed et al. The Genomic Landscape of Lobular Breast Cancer. Cancers 2021, 13, 1950. Cancers, 13 (16) 4010, 4010. doi: 10.3390/cancers13164010

Correction: McCart Reed et al. The Genomic Landscape of Lobular Breast Cancer. Cancers 2021, 13, 1950

2021

Journal Article

The genomic landscape of lobular breast cancer

McCart Reed, Amy E., Foong, Samuel, Kutasovic, Jamie R., Nones, Katia, Waddell, Nicola, Lakhani, Sunil R. and Simpson, Peter T. (2021). The genomic landscape of lobular breast cancer. Cancers, 13 (8) 1950, 1950. doi: 10.3390/cancers13081950

The genomic landscape of lobular breast cancer

2021

Journal Article

Abstract PR007: Genomic characterization of endometrial cancer patient-derived xenografts reveals intratumor heterogeneity

Kondrashova, Olga, Bonazzi, Vanessa F., Smith, Deborah, Nones, Katia, Sengal, Asmerom, Ju, Robert, Packer, Leisl M., Koufariotis, Lambros T, Kazakoff, Stephen H., Davidson, Aimee L., Ramarao-Milne, Priya, Lakis, Vanessa, Newell, Felicity, Rogers, Rebecca, Davies, Claire, Chetty, Naven, Perrin, Lewis, Pearson, John, Patch, Ann-Marie, Garrett, Andrea, Waddell, Nicola, Pollock, Pamela and Nicklin, James (2021). Abstract PR007: Genomic characterization of endometrial cancer patient-derived xenografts reveals intratumor heterogeneity. Clinical Cancer Research, 27 (3_Supplement). doi: 10.1158/1557-3265.endomet20-pr007

Abstract PR007: Genomic characterization of endometrial cancer patient-derived xenografts reveals intratumor heterogeneity

2021

Journal Article

Verifying explainability of a deep learning tissue classifier trained on RNA-seq data

Yap, Melvyn, Johnston, Rebecca L., Foley, Helena, MacDonald, Samual, Kondrashova, Olga, Tran, Khoa A., Nones, Katia, Koufariotis, Lambros T., Bean, Cameron, Pearson, John V., Trzaskowski, Maciej and Waddell, Nicola (2021). Verifying explainability of a deep learning tissue classifier trained on RNA-seq data. Scientific Reports, 11 (1) 2641. doi: 10.1038/s41598-021-81773-9

Verifying explainability of a deep learning tissue classifier trained on RNA-seq data

2021

Journal Article

Targeting DNA damage response and replication stress in pancreatic cancer

Dreyer, Stephan B., Upstill-Goddard, Rosie, Paulus-Hock, Viola, Paris, Clara, Lampraki, Eirini-Maria, Dray, Eloise, Serrels, Bryan, Caligiuri, Giuseppina, Rebus, Selma, Plenker, Dennis, Galluzzo, Zachary, Brunton, Holly, Cunningham, Richard, Tesson, Mathias, Nourse, Craig, Bailey, Ulla-Maja, Jones, Marc D., Moran-Jones, Kim, Wright, Derek W., Duthie, Fraser, Oien, Karin, Evers, Lisa, McKay, Colin J., McGregor, Grant A., Gulati, Aditi, Brough, Rachel, Bajrami, Ilirjana, Pettitt, Stephan, Dziubinski, Michele L. ... Sansom, Owen J. (2021). Targeting DNA damage response and replication stress in pancreatic cancer. Gastroenterology, 160 (1), 362-377.e13. doi: 10.1053/j.gastro.2020.09.043

Targeting DNA damage response and replication stress in pancreatic cancer

2020

Journal Article

Inferring structural variant cancer cell fraction

Cmero, Marek, Yuan, Ke, Ong, Cheng Soon, Schröder, Jan, Adams, David J., Anur, Pavana, Beroukhim, Rameen, Boutros, Paul C., Bowtell, David D. L., Campbell, Peter J., Cao, Shaolong, Christie, Elizabeth L., Cun, Yupeng, Dawson, Kevin J., Demeulemeester, Jonas, Dentro, Stefan C., Deshwar, Amit G., Donmez, Nilgun, Drews, Ruben M., Eils, Roland, Fan, Yu, Fittall, Matthew W., Garsed, Dale W., Gerstung, Moritz, Getz, Gad, Gonzalez, Santiago, Ha, Gavin, Haase, Kerstin, Imielinski, Marcin ... von Mering, Christian (2020). Inferring structural variant cancer cell fraction. Nature Communications, 11 (1) 730. doi: 10.1038/s41467-020-14351-8

Inferring structural variant cancer cell fraction

2020

Journal Article

Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients

Aoude, Lauren G., Bonazzi, Vanessa F., Brosda, Sandra, Patel, Kalpana, Koufariotis, Lambros T., Oey, Harald, Nones, Katia, Wood, Scott, Pearson, John V., Lonie, James M., Arneil, Melissa, Atkinson, Victoria, Smithers, B. Mark, Waddell, Nicola and Barbour, Andrew P. (2020). Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients. Scientific Reports, 10 (1) 17687, 17687. doi: 10.1038/s41598-020-74956-3

Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients

2020

Journal Article

Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity

Newell, Felicity, Wilmott, James S., Johansson, Peter A., Nones, Katia, Addala, Venkateswar, Mukhopadhyay, Pamela, Broit, Natasa, Amato, Carol M., Van Gulick, Robert, Kazakoff, Stephen H., Patch, Ann-Marie, Koufariotis, Lambros T., Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Holmes, Oliver, Xu, Qinying, Lewis, Karl, Medina, Theresa, Gonzalez, Rene, Saw, Robyn P. M., Spillane, Andrew J., Stretch, Jonathan R., Rawson, Robert V., Ferguson, Peter M., Dodds, Tristan J., Thompson, John F., Long, Georgina V., Levesque, Mitchell P. ... Hayward, Nicholas K. (2020). Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity. Nature Communications, 11 (1) 5259, 5259. doi: 10.1038/s41467-020-18988-3

Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity

2020

Journal Article

The Impact of Next Generation Sequencing in Cancer Research

Nones, Katia and Patch, Ann-Marie (2020). The Impact of Next Generation Sequencing in Cancer Research. Cancers, 12 (10) 2928, 2928-4. doi: 10.3390/cancers12102928

The Impact of Next Generation Sequencing in Cancer Research

2020

Journal Article

Using whole-genome sequencing data to derive the homologous recombination deficiency scores

de 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

Using whole-genome sequencing data to derive the homologous recombination deficiency scores

2020

Journal Article

Estimating the costs of genomic sequencing in cancer control

Gordon, 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

Estimating the costs of genomic sequencing in cancer control

2020

Journal Article

Genomic basis for RNA alterations in cancer

Calabrese, 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

Genomic basis for RNA alterations in cancer