Dr. Justin Whalley, Ph.D
Assistant Professor of Bioinformatics, with experience in finding the quintessential features in large, multi-layered 'omic datasets.
Research Expertise
About
Publications
The Repertoire of Mutational Signatures in Human Cancer
May 15, 2018
Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., Islam, S. M. A., Lopez-Bigas, N., Klimczak, L. J., McPherson, J. R., Morganella, S., Sabarinathan, R., Wheeler, D. A., Mustonen, V., … Getz, G. (2018). The Repertoire of Mutational Signatures in Human Cancer. https://doi.org/10.1101/322859
Cancer Gets a Global Genomic Map: The Pan-Cancer Analysis of Whole Genomes incorporated 2,658 whole genomes, 38 tumor types, 1,188 transcriptomes, and 1,300 scientists from 37 countries
Clinical OMICs / Mar 01, 2020
Cancer Gets a Global Genomic Map: The Pan-Cancer Analysis of Whole Genomes incorporated 2,658 whole genomes, 38 tumor types, 1,188 transcriptomes, and 1,300 scientists from 37 countries. (2020). Clinical OMICs, 7(2), 12–15. https://doi.org/10.1089/clinomi.07.02.14
TrackSig: reconstructing evolutionary trajectories of mutations in cancer
Feb 05, 2018
Rubanova, Y., Shi, R., Harrigan, C. F., Li, R., Wintersinger, J., Sahin, N., Deshwar, A., & Morris, Q. (2018). TrackSig: reconstructing evolutionary trajectories of mutations in cancer. https://doi.org/10.1101/260471
Patterns of structural variation in human cancer
Aug 27, 2017
Li, Y., Roberts, N. D., Weischenfeldt, J., Wala, J. A., Shapira, O., Schumacher, S. E., Khurana, E., Korbel, J., Imielinski, M., Beroukhim, R., & Campbell, P. J. (2017). Patterns of structural variation in human cancer. https://doi.org/10.1101/181339
Abstract LB-378: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Cancer Research / Jul 01, 2018
Cortés-Ciriano, I., Lee, J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., & Park, P. J. (2018). Abstract LB-378: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing. Cancer Research, 78(13_Supplement), LB-378-LB-378. https://doi.org/10.1158/1538-7445.am2018-lb-378
The whole-genome panorama of cancer drivers
Sep 20, 2017
Sabarinathan, R., Pich, O., Martincorena, I., Rubio-Perez, C., Juul, M., Wala, J., Schumacher, S., Shapira, O., Sidiropoulos, N., Waszak, S. M., Tamborero, D., Mularoni, L., Rheinbay, E., Hornshøj, H., Deu-Pons, J., Muiños, F., Bertl, J., Guo, Q., … Creighton, C. J. (2017). The whole-genome panorama of cancer drivers. https://doi.org/10.1101/190330
Pan-cancer analysis of whole genomes reveals driver rearrangements promoted by LINE-1 retrotransposition in human tumours
Aug 24, 2017
Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., Detering, H., Li, Y., Rodriguez-Castro, J., Dueso-Barroso, A., Bruzos, A. L., Dentro, S. C., Blanco, M. G., Contino, G., … Ardeljan, D. (2017). Pan-cancer analysis of whole genomes reveals driver rearrangements promoted by LINE-1 retrotransposition in human tumours. https://doi.org/10.1101/179705
The landscape of viral associations in human cancers
Nov 08, 2018
Zapatka, M., Borozan, I., Brewer, D. S., Iskar, M., Grundhoff, A., Alawi, M., Desai, N., Sültmann, H., Moch, H., Cooper, C. S., Eils, R., Ferretti, V., & Lichter, P. (2018). The landscape of viral associations in human cancers. https://doi.org/10.1101/465757
Genomic basis for RNA alterations revealed by whole-genome analyses of 27 cancer types
Sep 03, 2017
Calabrese, C., Davidson, N. R., Fonseca, N. A., He, Y., Kahles, A., Lehmann, K.-V., Liu, F., Shiraishi, Y., Soulette, C. M., Urban, L., Demircioğlu, D., Greger, L., Li, S., Liu, D., Perry, M. D., Xiang, L., Zhang, F., … Zhang, J. (2017). Genomic basis for RNA alterations revealed by whole-genome analyses of 27 cancer types. https://doi.org/10.1101/183889
Publisher Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers
Nature Genetics / Feb 11, 2020
Yuan, Y., Ju, Y. S., Kim, Y., Li, J., Wang, Y., Yoon, C. J., Yang, Y., Martincorena, I., Creighton, C. J., Weinstein, J. N., Xu, Y., Han, L., Kim, H.-L., Nakagawa, H., Park, K., Campbell, P. J., & Liang, H. (2020). Publisher Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers. Nature Genetics, 55(5), 893–893. https://doi.org/10.1038/s41588-020-0587-4
Spatial Genome Organization as a Framework for Somatic Alterations in Human Cancer
Aug 22, 2017
Akdemir, K. C., Li, Y., Verhaak, R. G., Beroukhim, R., Cambell, P., Chin, L., & Futreal, P. A. (2017). Spatial Genome Organization as a Framework for Somatic Alterations in Human Cancer. https://doi.org/10.1101/179176
A deep learning system can accurately classify primary and metastatic cancers based on patterns of passenger mutations
Nov 05, 2017
Jiao, W., Atwal, G., Polak, P., Karlic, R., Cuppen, E., Danyi, A., de Ridder, J., van Herpen, C., Lolkema, M. P., Steeghs, N., Getz, G., Morris, Q. D., & Stein, L. D. (2017). A deep learning system can accurately classify primary and metastatic cancers based on patterns of passenger mutations. https://doi.org/10.1101/214494
Unique genomic features and deeply-conserved functions of long non-coding RNAs in the Cancer LncRNA Census (CLC)
Jun 20, 2017
Carlevaro-Fita, J., Lanzós, A., Feuerbach, L., Hong, C., Mas-Ponte, D., Pedersen, J. S., & Johnson, R. (2017). Unique genomic features and deeply-conserved functions of long non-coding RNAs in the Cancer LncRNA Census (CLC). https://doi.org/10.1101/152769
Integrative pathway enrichment analysis of multivariate omics data
Aug 23, 2018
Paczkowska, M., Barenboim, J., Sintupisut, N., Fox, N. C., Zhu, H., Abd-Rabbo, D., Boutros, P. C., & Reimand, J. (2018). Integrative pathway enrichment analysis of multivariate omics data. https://doi.org/10.1101/399113
ABO blood group association and COVID-19. COVID-19 susceptibility and severity: a review
Hematology, Transfusion and Cell Therapy / Jan 01, 2022
Shibeeb, S., & Khan, A. (2022). ABO blood group association and COVID-19. COVID-19 susceptibility and severity: a review. Hematology, Transfusion and Cell Therapy, 44(1), 70–75. https://doi.org/10.1016/j.htct.2021.07.006
Genomic footprints of activated telomere maintenance mechanisms in cancer
Jun 30, 2017
Sieverling, L., Hong, C., Koser, S. D., Ginsbach, P., Kleinheinz, K., Hutter, B., Braun, D. M., Cortés-Ciriano, I., Xi, R., Kabbe, R., Park, P. J., Eils, R., Schlesner, M., Rippe, K., Jones, D. T. W., Brors, B., & Feuerbach, L. (2017). Genomic footprints of activated telomere maintenance mechanisms in cancer. https://doi.org/10.1101/157560
Divergent mutational processes distinguish hypoxic and normoxic tumours
Jan 28, 2019
Bhandari, V., Li, C. H., Bristow, R. G., & Boutros, P. C. (2019). Divergent mutational processes distinguish hypoxic and normoxic tumours. https://doi.org/10.1101/531996
Pathway and network analysis of more than 2,500 whole cancer genomes
Aug 07, 2018
Reyna, M. A., Haan, D., Paczkowska, M., Verbeke, L. P. C., Vazquez, M., Kahraman, A., Pulido-Tamayo, S., Barenboim, J., Wadi, L., Dhingra, P., Shrestha, R., Getz, G., Lawrence, M. S., Pedersen, J. S., Rubin, M. A., Wheeler, D. A., Brunak, S., Izarzugaza, J. M., … Khurana, E. (2018). Pathway and network analysis of more than 2,500 whole cancer genomes. https://doi.org/10.1101/385294
Sex Differences in Oncogenic Mutational Processes
Jan 23, 2019
Li, C. H., Prokopec, S. D., Sun, R. X., Yousif, F., Schmitz, N., & Boutros, P. C. (2019). Sex Differences in Oncogenic Mutational Processes. https://doi.org/10.1101/528968
Whole genome and RNA sequencing of 1,220 cancers reveals hundreds of genes deregulated by rearrangement of cis-regulatory elements
Jan 12, 2017
Zhang, Y., Chen, F., Fonseca, N. A., He, Y., Fujita, M., Nakagawa, H., Zhang, Z., Brazma, A., & Creighton, C. J. (2017). Whole genome and RNA sequencing of 1,220 cancers reveals hundreds of genes deregulated by rearrangement of cis-regulatory elements. https://doi.org/10.1101/099861
DriverPower: Combined burden and functional impact tests for cancer driver discovery
Nov 06, 2017
Shuai, S., Gallinger, S., & Stein, L. (2017). DriverPower: Combined burden and functional impact tests for cancer driver discovery. https://doi.org/10.1101/215244
Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples
Jul 04, 2023
Ji, S., Zhu, T., Sethia, A., & Wang, W. (2023). Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples. https://doi.org/10.1101/2023.07.04.547569
SVclone: inferring structural variant cancer cell fraction
Aug 04, 2017
Cmero, M., Ong, C. S., Yuan, K., Schröder, J., Mo, K., Corcoran, N. M., Papenfuss, A. T., Hovens, C. M., Markowetz, F., & Macintyre, G. (2017). SVclone: inferring structural variant cancer cell fraction. https://doi.org/10.1101/172486
Enabling rapid cloud-based analysis of thousands of human genomes via Butler
Sep 07, 2017
Yakneen, S., Waszak, S. M., Gertz, M., & Korbel, J. O. (2017). Enabling rapid cloud-based analysis of thousands of human genomes via Butler. https://doi.org/10.1101/185736
Constructing custom-made radiotranscriptomic signatures from CT angiograms: an application in COVID-19 vascular inflammation
European Heart Journal / Oct 01, 2022
Kotanidis, C. P., Xie, C., Siddique, M., Burnham, K., Lockstone, H., Kotronias, R., West, H., Rodrigues, J., Adlam, D., Neubauer, S., Channon, K., Deanfield, J., Ho, L. P., & Antoniades, C. (2022). Constructing custom-made radiotranscriptomic signatures from CT angiograms: an application in COVID-19 vascular inflammation. European Heart Journal, 43(Supplement_2). https://doi.org/10.1093/eurheartj/ehac544.198
Mapping the epigenomic landscape of human monocytes following innate immune activation reveals context-specific mechanisms driving endotoxin tolerance
BMC Genomics / Oct 07, 2023
Amarasinghe, H. E., Zhang, P., Whalley, J. P., Allcock, A., Migliorini, G., Brown, A. C., Scozzafava, G., & Knight, J. C. (2023). Mapping the epigenomic landscape of human monocytes following innate immune activation reveals context-specific mechanisms driving endotoxin tolerance. BMC Genomics, 24(1). https://doi.org/10.1186/s12864-023-09663-0
Genetic Manipulation of Animals for Modeling Disease and Investigating Gene Function
Human Molecular Genetics / Mar 29, 2018
Strachan, T., & Read, A. (2018). Genetic Manipulation of Animals for Modeling Disease and Investigating Gene Function. Human Molecular Genetics, 639–675. https://doi.org/10.4324/9780203833544-20
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile
Genome Medicine / Sep 12, 2023
Zhang, J.-Y., Whalley, J. P., Knight, J. C., Wicker, L. S., Todd, J. A., & Ferreira, R. C. (2023). SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile. Genome Medicine, 15(1). https://doi.org/10.1186/s13073-023-01227-x
A Transcriptomic Approach to Understand Patient Susceptibility to Pneumonia After Abdominal Surgery
Annals of Surgery / Jul 27, 2023
Torrance, H. D., Zhang, P., Longbottom, E. R., Mi, Y., Whalley, J. P., Allcock, A., Kwok, A. J., Cano-Gamez, E., Geoghegan, C. G., Burnham, K. L., Antcliffe, D. B., Davenport, E. E., Pearse, R. M., O’Dwyer, M. J., Hinds, C. J., Knight, J. C., & Gordon, A. C. (2023). A Transcriptomic Approach to Understand Patient Susceptibility to Pneumonia After Abdominal Surgery. Annals of Surgery. https://doi.org/10.1097/sla.0000000000006050
A transcriptomic approach to understand patient susceptibility to pneumonia after abdominal surgery
Jan 28, 2023
Torrance, H. D., Zhang, P., Longbottom, E. R., Mi, Y., Whalley, J. P., Allcock, A., Kwok, A. J., Cano-Gamez, E., Geoghegan, C. G., Burnham, K. L., Antcliffe, D. B., Davenport, E. E., Pearse, R. M., O’Dwyer, M. J., Hinds, C. J., Knight, J. C., & Gordon, A. C. (2023). A transcriptomic approach to understand patient susceptibility to pneumonia after abdominal surgery. https://doi.org/10.1101/2023.01.25.23284914
Unbiased single cell spatial analysis localises inflammatory clusters of immature neutrophils-CD8 T cells to alveolar progenitor cells in fatal COVID-19 lungs
Dec 23, 2022
Weeratunga, P., Denney, L., Bull, J. A., Repapi, E., Sergeant, M., Etherington, R., Vuppussetty, C., Turner, G. D. H., Clelland, C., Cross, A., Issa, F., de Andrea, C. E., Bermejo, I. M., Sims, D., McGowan, S., Zurke, Y.-X., Ahern, D. J., Gamez, E. C., … Ho, L.-P. (2022). Unbiased single cell spatial analysis localises inflammatory clusters of immature neutrophils-CD8 T cells to alveolar progenitor cells in fatal COVID-19 lungs. https://doi.org/10.1101/2022.12.21.22283654
Coronavirus disease 2019 subphenotypes and differential treatment response to convalescent plasma in critically ill adults: secondary analyses of a randomized clinical trial
Intensive Care Medicine / Sep 14, 2022
Fish, M., Rynne, J., Jennings, A., Lam, C., Lamikanra, A. A., Ratcliff, J., Cellone-Trevelin, S., Timms, E., Jiriha, J., Tosi, I., Pramanik, R., Simmonds, P., Seth, S., Williams, J., Gordon, A. C., Knight, J., Smith, D. J., Whalley, J., … Harrison, D. (2022). Coronavirus disease 2019 subphenotypes and differential treatment response to convalescent plasma in critically ill adults: secondary analyses of a randomized clinical trial. Intensive Care Medicine, 48(11), 1525–1538. https://doi.org/10.1007/s00134-022-06869-w
High-throughput mass spectrometry maps the sepsis plasma proteome and differences in response
Aug 09, 2022
Mi, Y., Burnham, K. L., Charles, P. D., Heilig, R., Vendrell, I., Whalley, J., Torrance, H. D., Antcliffe, D. B., May, S. M., Neville, M. J., Berridge, G., Hutton, P., Goh, C., Radhakrishnan, J., Nesvizhskii, A., Yu, F., Davenport, E. E., McKechnie, S., … Davies, R. (2022). High-throughput mass spectrometry maps the sepsis plasma proteome and differences in response. https://doi.org/10.1101/2022.08.07.22278495
Constructing custom-made radiotranscriptomic signatures of vascular inflammation from routine CT angiograms: a prospective outcomes validation study in COVID-19
The Lancet Digital Health / Oct 01, 2022
Kotanidis, C. P., Xie, C., Alexander, D., Rodrigues, J. C. L., Burnham, K., Mentzer, A., O’Connor, D., Knight, J., Siddique, M., Lockstone, H., Thomas, S., Kotronias, R., Oikonomou, E. K., Badi, I., Lyasheva, M., Shirodaria, C., Lumley, S. F., Constantinides, B., Sanderson, N., … Lin, W.-H. (2022). Constructing custom-made radiotranscriptomic signatures of vascular inflammation from routine CT angiograms: a prospective outcomes validation study in COVID-19. The Lancet Digital Health, 4(10), e705–e716. https://doi.org/10.1016/s2589-7500(22)00132-7
Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity
Nature Communications / Jul 14, 2022
Gilchrist, J. J., Makino, S., Naranbhai, V., Sharma, P. K., Koturan, S., Tong, O., Taylor, C. A., Watson, R. A., de los Aires, A. V., Cooper, R., Lau, E., Danielli, S., Hameiri-Bowen, D., Lee, W., Ng, E., Whalley, J., Knight, J. C., & Fairfax, B. P. (2022). Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-31626-4
Epigenomic analysis reveals a dynamic and context-specific macrophage enhancer landscape associated with innate immune activation and tolerance
Genome Biology / Jun 24, 2022
Zhang, P., Amarasinghe, H. E., Whalley, J. P., Tay, C., Fang, H., Migliorini, G., Brown, A. C., Allcock, A., Scozzafava, G., Rath, P., Davies, B., & Knight, J. C. (2022). Epigenomic analysis reveals a dynamic and context-specific macrophage enhancer landscape associated with innate immune activation and tolerance. Genome Biology, 23(1). https://doi.org/10.1186/s13059-022-02702-1
A blood atlas of COVID-19 defines hallmarks of disease severity and specificity
Cell / Mar 01, 2022
Ahern, D. J., Ai, Z., Ainsworth, M., Allan, C., Allcock, A., Angus, B., Ansari, M. A., Arancibia-Cárcamo, C. V., Aschenbrenner, D., Attar, M., Baillie, J. K., Barnes, E., Bashford-Rogers, R., Bashyal, A., Beer, S., Berridge, G., Beveridge, A., Bibi, S., Bicanic, T., … Zurke, Y.-X. (2022). A blood atlas of COVID-19 defines hallmarks of disease severity and specificity. Cell, 185(5), 916-938.e58. https://doi.org/10.1016/j.cell.2022.01.012
Using de novo assembly to identify structural variation of eight complex immune system gene regions
PLOS Computational Biology / Aug 03, 2021
Zhang, J.-Y., Roberts, H., Flores, D. S. C., Cutler, A. J., Brown, A. C., Whalley, J. P., Mielczarek, O., Buck, D., Lockstone, H., Xella, B., Oliver, K., Corton, C., Betteridge, E., Bashford-Rogers, R., Knight, J. C., Todd, J. A., & Band, G. (2021). Using de novo assembly to identify structural variation of eight complex immune system gene regions. PLOS Computational Biology, 17(8), e1009254. https://doi.org/10.1371/journal.pcbi.1009254
Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity
May 11, 2021
Gilchrist, J. J., Makino, S., Naranbhai, V., Lau, E., Danielli, S., Hameiri-Bowen, D., Lee, W., Ng, E., Whalley, J., Knight, J. C., & Fairfax, B. P. (2021). Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity. https://doi.org/10.1101/2021.05.10.443088
Genome-wide CRISPR/Cas9-knockout in human induced Pluripotent Stem Cell (iPSC)-derived macrophages
Scientific Reports / Feb 19, 2021
Navarro-Guerrero, E., Tay, C., Whalley, J. P., Cowley, S. A., Davies, B., Knight, J. C., & Ebner, D. (2021). Genome-wide CRISPR/Cas9-knockout in human induced Pluripotent Stem Cell (iPSC)-derived macrophages. Scientific Reports, 11(1). https://doi.org/10.1038/s41598-021-82137-z
Using de novo assembly to identify structural variation of complex immune system gene regions
Feb 04, 2021
Zhang, J.-Y., Roberts, H., Flores, D. S. C., Cutler, A. J., Brown, A. C., Whalley, J. P., Mielczarek, O., Buck, D., Lockstone, H., Xella, B., Oliver, K., Corton, C., Betteridge, E., Bashford-Rogers, R., Knight, J. C., Todd, J. A., & Band, G. (2021). Using de novo assembly to identify structural variation of complex immune system gene regions. https://doi.org/10.1101/2021.02.03.429586
Framework for quality assessment of whole genome cancer sequences
Nature Communications / Oct 07, 2020
Whalley, J. P., Buchhalter, I., Rheinbay, E., Raine, K. M., Stobbe, M. D., Kleinheinz, K., Werner, J., Beltran, S., Gut, M., Hübschmann, D., Hutter, B., Livitz, D., Perry, M. D., Rosenberg, M., Saksena, G., Trotta, J.-R., Eils, R., Gerhard, D. S., Campbell, P. J., … Gut, I. G. (2020). Framework for quality assessment of whole genome cancer sequences. Nature Communications, 11(1). https://doi.org/10.1038/s41467-020-18688-y
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
Nature Communications / Sep 21, 2020
Bailey, M. H., Meyerson, W. U., Dursi, L. J., Wang, L.-B., Dong, G., Liang, W.-W., Weerasinghe, A., Li, S., Li, Y., Kelso, S., Akbani, R., Anur, P., Bailey, M. H., Buchanan, A., Chiotti, K., Covington, K., Creason, A., Ding, L., … Ellrott, K. (2020). Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nature Communications, 11(1). https://doi.org/10.1038/s41467-020-18151-y
Sex differences in oncogenic mutational processes
Nature Communications / Aug 28, 2020
Li, C. H., Prokopec, S. D., Sun, R. X., Yousif, F., Schmitz, N., Al-Shahrour, F., Atwal, G., Bailey, P. J., Biankin, A. V., Boutros, P. C., Campbell, P. J., Chang, D. K., Cooke, S. L., Deshpande, V., Faltas, B. M., Faquin, W. C., Garraway, L., Getz, G., … Grimmond, S. M. (2020). Sex differences in oncogenic mutational processes. Nature Communications, 11(1). https://doi.org/10.1038/s41467-020-17359-2
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Nature Genetics / Feb 05, 2020
Cortés-Ciriano, I., Lee, J. J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R., Boutros, P. C., Bowtell, D. D. L., Brors, B., Burns, K. H., … Campbell, P. J. (2020). Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing. Nature Genetics, 52(3), 331–341. https://doi.org/10.1038/s41588-019-0576-7
Comprehensive molecular characterization of mitochondrial genomes in human cancers
Nature Genetics / Feb 05, 2020
Yuan, Y., Ju, Y. S., Kim, Y., Li, J., Wang, Y., Yoon, C. J., Yang, Y., Martincorena, I., Creighton, C. J., Weinstein, J. N., Xu, Y., Han, L., Kim, H.-L., Nakagawa, H., Park, K., Campbell, P. J., Liang, H., Aaltonen, L. A., … Abascal, F. (2020). Comprehensive molecular characterization of mitochondrial genomes in human cancers. Nature Genetics, 52(3), 342–352. https://doi.org/10.1038/s41588-019-0557-x
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer
Nature Genetics / Feb 05, 2020
Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Boutros, P. C., Bowtell, D. D. L., Brors, B., Burns, K. H., Campbell, P. J., … Chan, K. (2020). Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer. Nature Genetics, 52(3), 294–305. https://doi.org/10.1038/s41588-019-0564-y
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
Nature Genetics / Feb 05, 2020
Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., Detering, H., Li, Y., Rodriguez-Castro, J., Dueso-Barroso, A., Bruzos, A. L., Dentro, S. C., Blanco, M. G., Contino, G., … Ardeljan, D. (2020). Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics, 52(3), 306–319. https://doi.org/10.1038/s41588-019-0562-0
Butler enables rapid cloud-based analysis of thousands of human genomes
Nature Biotechnology / Feb 05, 2020
Yakneen, S., Waszak, S. M., Aminou, B., Bartolome, J., Boroevich, K. A., Boyce, R., Brooks, A. N., Buchanan, A., Buchhalter, I., Butler, A. P., Byrne, N. J., Cafferkey, A., Campbell, P. J., Chen, Z., Cho, S., Choi, W., Clapham, P., Davis-Dusenbery, B. N., … De La Vega, F. M. (2020). Butler enables rapid cloud-based analysis of thousands of human genomes. Nature Biotechnology, 38(3), 288–292. https://doi.org/10.1038/s41587-019-0360-3
The landscape of viral associations in human cancers
Nature Genetics / Feb 05, 2020
Zapatka, M., Borozan, I., Brewer, D. S., Iskar, M., Grundhoff, A., Alawi, M., Desai, N., Sültmann, H., Moch, H., Alawi, M., Borozan, I., Brewer, D. S., Cooper, C. S., Desai, N., Eils, R., Ferretti, V., Grundhoff, A., Iskar, M., … Kleinheinz, K. (2020). The landscape of viral associations in human cancers. Nature Genetics, 52(3), 320–330. https://doi.org/10.1038/s41588-019-0558-9
The evolutionary history of 2,658 cancers
Nature / Feb 05, 2020
Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., Tarabichi, M., Deshwar, A., Wintersinger, J., Kleinheinz, K., Vázquez-García, I., Haase, K., Jerman, L., Sengupta, S., … Macintyre, G. (2020). The evolutionary history of 2,658 cancers. Nature, 578(7793), 122–128. https://doi.org/10.1038/s41586-019-1907-7
A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
Nature Communications / Feb 05, 2020
Jiao, W., Atwal, G., Polak, P., Karlic, R., Cuppen, E., Al-Shahrour, F., Atwal, G., Bailey, P. J., Biankin, A. V., Boutros, P. C., Campbell, P. J., Chang, D. K., Cooke, S. L., Deshpande, V., Faltas, B. M., Faquin, W. C., Garraway, L., Getz, G., … Grimmond, S. M. (2020). A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns. Nature Communications, 11(1). https://doi.org/10.1038/s41467-019-13825-8
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
Nature / Feb 05, 2020
Rheinbay, E., Nielsen, M. M., Abascal, F., Wala, J. A., Shapira, O., Tiao, G., Hornshøj, H., Hess, J. M., Juul, R. I., Lin, Z., Feuerbach, L., Sabarinathan, R., Madsen, T., Kim, J., Mularoni, L., Shuai, S., Lanzós, A., Herrmann, C., … Maruvka, Y. E. (2020). Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. Nature, 578(7793), 102–111. https://doi.org/10.1038/s41586-020-1965-x
Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis
Communications Biology / Feb 05, 2020
Carlevaro-Fita, J., Lanzós, A., Feuerbach, L., Hong, C., Mas-Ponte, D., Pedersen, J. S., Abascal, F., Amin, S. B., Bader, G. D., Barenboim, J., Beroukhim, R., Bertl, J., Boroevich, K. A., Brunak, S., Campbell, P. J., Carlevaro-Fita, J., Chakravarty, D., Chan, C. W. Y., … Chen, K. (2020). Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis. Communications Biology, 3(1). https://doi.org/10.1038/s42003-019-0741-7
Combined burden and functional impact tests for cancer driver discovery using DriverPower
Nature Communications / Feb 05, 2020
Shuai, S., Abascal, F., Amin, S. B., Bader, G. D., Bandopadhayay, P., Barenboim, J., Beroukhim, R., Bertl, J., Boroevich, K. A., Brunak, S., Campbell, P. J., Carlevaro-Fita, J., Chakravarty, D., Chan, C. W. Y., Chen, K., Choi, J. K., Deu-Pons, J., Dhingra, P., … Diamanti, K. (2020). Combined burden and functional impact tests for cancer driver discovery using DriverPower. Nature Communications, 11(1). https://doi.org/10.1038/s41467-019-13929-1
Divergent mutational processes distinguish hypoxic and normoxic tumours
Nature Communications / Feb 05, 2020
Bhandari, V., Li, C. H., Bristow, R. G., Boutros, P. C., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., … Alawi, M. (2020). Divergent mutational processes distinguish hypoxic and normoxic tumours. Nature Communications, 11(1). https://doi.org/10.1038/s41467-019-14052-x
Genomic basis for RNA alterations in cancer
Nature / Feb 05, 2020
Calabrese, C., Davidson, N. R., Demircioğlu, D., Fonseca, N. A., He, Y., Kahles, A., Lehmann, K.-V., Liu, F., Shiraishi, Y., Soulette, C. M., Urban, L., Calabrese, C., Davidson, N. R., Demircioğlu, D., Fonseca, N. A., He, Y., Kahles, A., … Lehmann, K.-V. (2020). Genomic basis for RNA alterations in cancer. Nature, 578(7793), 129–136. https://doi.org/10.1038/s41586-020-1970-0
Genomic footprints of activated telomere maintenance mechanisms in cancer
Nature Communications / Feb 05, 2020
Sieverling, L., Hong, C., Koser, S. D., Ginsbach, P., Kleinheinz, K., Hutter, B., Braun, D. M., Cortés-Ciriano, I., Xi, R., Kabbe, R., Park, P. J., Eils, R., Schlesner, M., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R., Boutros, P. C., … Bowtell, D. D. L. (2020). Genomic footprints of activated telomere maintenance mechanisms in cancer. Nature Communications, 11(1). https://doi.org/10.1038/s41467-019-13824-9
High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations
Nature Communications / Feb 05, 2020
Zhang, Y., Chen, F., Fonseca, N. A., He, Y., Fujita, M., Nakagawa, H., Zhang, Z., Brazma, A., Amin, S. B., Awadalla, P., Bailey, P. J., Brazma, A., Brooks, A. N., Calabrese, C., Chateigner, A., Cortés-Ciriano, I., Craft, B., Craft, D., … Creighton, C. J. (2020). High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations. Nature Communications, 11(1). https://doi.org/10.1038/s41467-019-13885-w
Inferring structural variant cancer cell fraction
Nature Communications / Feb 05, 2020
Cmero, M., Yuan, K., Ong, C. S., Schröder, J., Adams, D. J., Anur, P., Beroukhim, R., Boutros, P. C., Bowtell, D. D. L., Campbell, P. J., Cao, S., Christie, E. L., Cun, Y., Dawson, K. J., Demeulemeester, J., Dentro, S. C., Deshwar, A. G., Donmez, N., … Drews, R. M. (2020). Inferring structural variant cancer cell fraction. Nature Communications, 11(1). https://doi.org/10.1038/s41467-020-14351-8
Integrative pathway enrichment analysis of multivariate omics data
Nature Communications / Feb 05, 2020
Paczkowska, M., Barenboim, J., Sintupisut, N., Fox, N. S., Zhu, H., Abd-Rabbo, D., Mee, M. W., Boutros, P. C., Abascal, F., Amin, S. B., Bader, G. D., Beroukhim, R., Bertl, J., Boroevich, K. A., Brunak, S., Campbell, P. J., Carlevaro-Fita, J., Chakravarty, D., … Chan, C. W. Y. (2020). Integrative pathway enrichment analysis of multivariate omics data. Nature Communications, 11(1). https://doi.org/10.1038/s41467-019-13983-9
Pathway and network analysis of more than 2500 whole cancer genomes
Nature Communications / Feb 05, 2020
Reyna, M. A., Haan, D., Paczkowska, M., Verbeke, L. P. C., Vazquez, M., Kahraman, A., Pulido-Tamayo, S., Barenboim, J., Wadi, L., Dhingra, P., Shrestha, R., Getz, G., Lawrence, M. S., Pedersen, J. S., Rubin, M. A., Wheeler, D. A., Brunak, S., Izarzugaza, J. M. G., … Khurana, E. (2020). Pathway and network analysis of more than 2500 whole cancer genomes. Nature Communications, 11(1). https://doi.org/10.1038/s41467-020-14367-0
Patterns of somatic structural variation in human cancer genomes
Nature / Feb 05, 2020
Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., Imielinski, M., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R., Boutros, P. C., Bowtell, D. D. L., Brors, B., … Burns, K. H. (2020). Patterns of somatic structural variation in human cancer genomes. Nature, 578(7793), 112–121. https://doi.org/10.1038/s41586-019-1913-9
Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig
Nature Communications / Feb 05, 2020
Rubanova, Y., Shi, R., Harrigan, C. F., Li, R., Wintersinger, J., Sahin, N., Deshwar, A. G., Dentro, S. C., Leshchiner, I., Gerstung, M., Jolly, C., Haase, K., Tarabichi, M., Wintersinger, J., Deshwar, A. G., Yu, K., Gonzalez, S., Rubanova, Y., … Macintyre, G. (2020). Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig. Nature Communications, 11(1). https://doi.org/10.1038/s41467-020-14352-7
The repertoire of mutational signatures in human cancer
Nature / Feb 05, 2020
Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., Islam, S. M. A., Lopez-Bigas, N., Klimczak, L. J., McPherson, J. R., Morganella, S., Sabarinathan, R., Wheeler, D. A., Mustonen, V., … Alexandrov, L. B. (2020). The repertoire of mutational signatures in human cancer. Nature, 578(7793), 94–101. https://doi.org/10.1038/s41586-020-1943-3
Pan-cancer analysis of whole genomes
Nature / Feb 05, 2020
Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., … von Mering, C. (2020). Pan-cancer analysis of whole genomes. Nature, 578(7793), 82–93. https://doi.org/10.1038/s41586-020-1969-6
Recurrent somatic mutations reveal new insights into consequences of mutagenic processes in cancer
PLOS Computational Biology / Nov 25, 2019
Stobbe, M. D., Thun, G. A., Diéguez-Docampo, A., Oliva, M., Whalley, J. P., Raineri, E., & Gut, I. G. (2019). Recurrent somatic mutations reveal new insights into consequences of mutagenic processes in cancer. PLOS Computational Biology, 15(11), e1007496. https://doi.org/10.1371/journal.pcbi.1007496
Framework for quality assessment of whole genome, cancer sequences
May 22, 2017
Whalley, J. P., Buchhalter, I., Rheinbay, E., Raine, K. M., Kleinheinz, K., Stobbe, M. D., Werner, J., Beltran, S., Gut, M., Huebschmann, D., Hutter, B., Livitz, D., Perry, M., Rosenberg, M., Saksena, G., Trotta, J.-R., Eils, R., Korbel, J., Gerhard, D. S., … Gut, I. G. (2017). Framework for quality assessment of whole genome, cancer sequences. https://doi.org/10.1101/140921
Education
Université d'Évry Val-d'Essonne
Ph.D., Bioinformatics / May, 2015
University of Bristol
M.Sci., Mathematics / June, 2008
Experience
University of Oxford
Senior Bioinformatician / 2017 — 2022
Rosalind Franklin University of Medicine and Science Chicago Medical School
Assistant Professor of Bioinformatics / 2023 — Present
CNAG
Postdoctoral Researcher / 2014 — 2017
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