Dr. Justin Whalley, Ph.D

Assistant Professor of Bioinformatics, with experience in finding the quintessential features in large, multi-layered 'omic datasets.

North Chicago, Illinois, United States of America

Research Interests

Genomics
Bioinformatics
Immunity
Tensor decomposition
Cancer
Cancer Research
Oncology
Genetics
Immunology and Allergy
Computational Theory and Mathematics
Cellular and Molecular Neuroscience
Molecular Biology
Modeling and Simulation
Ecology, Evolution, Behavior and Systematics
Critical Care and Intensive Care Medicine
Cardiology and Cardiovascular Medicine
Genetics (clinical)
Molecular Medicine
Biotechnology

About

Dr. Justin P. Whalley was educated in the UK (M.Sci. Mathematics, University of Bristol) and France (Ph.D. Bioinformatics, University of Évry). He moved to Spain to work as a postdoc at the National Center for Genomic Analysis (CNAG). During his time there, he ran the Quality Control working group for the Pan-Cancer Analysis of Whole Genomes project to assess the data coming in and reduce batch effects. This involved collaboration with researchers from the Broad Institute of MIT and Harvard, the German Cancer Research Center and the Wellcome Sanger Institute in the UK. He returned to the UK to work as a [Senior Bioinformatician at the University of Oxford](https://www.well.ox.ac.uk/people/jpw/). His time there coincided with the global pandemic and he was deeply involved in the COvid-19 Multi-omics Blood ATlas (COMBAT) consortium as the lead for the Integration (Tensor) working group. Dr. Whalley became a member of the [faculty of the Chicago Medical School at Rosalind Franklin University of Medicine and Science](https://www.rosalindfranklin.edu/academics/faculty/justin-p-whalley/) in January 2023.

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

Évry

University of Bristol

M.Sci., Mathematics / June, 2008

Bristol

Experience

University of Oxford

Senior Bioinformatician / 20172022

Rosalind Franklin University of Medicine and Science Chicago Medical School

Assistant Professor of Bioinformatics / 2023Present

CNAG

Postdoctoral Researcher / 20142017

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