Author
Aarhus UniversityORCID 0000-0002-0763-4538Unclaimed ORCID profile · follow to get notified of new preprints
8 papers
Recent·Most cited
Simon Grund Sørensen, Amruta Shrikhande, Gustav Alexander Poulsgaard, Mikkel Hovden Christensen, Johanna Bertl, Britt Elmedal Laursen, Eva R. Hoffmann, Jakob Skou Pedersen
The paper identifies DNA repair deficiency genes using mutational patterns and develops predictive models for their loss-of-function variants across cancers.
eLife · Mar 8, 2023Peer-reviewedGenomics
Joana Carlevaro-Fita, Andrés Lanzós, Lars Feuerbach, Chen Hong, David Mas-Ponte, Jakob Skou Pedersen, PCAWG Drivers and Functional Interpretation Group, Federico Abascal, Samirkumar B. Amin, Gary D. Bader, Jonathan Barenboim, Rameen Beroukhim, Johanna Bertl, Keith A. Boroevich, Søren Brunak, , S. Cenk Şahinalp
The paper introduces the Cancer LncRNA Census (CLC), a curated resource of lncRNAs with causative roles in cancer, and shows their genomic and evolutionary features.
Communications Biology · Feb 5, 2020Peer-reviewedGenomics
Lauri A. Aaltonen, Federico Abascal, Adam A. Abeshouse, Hiroyuki Aburatani, David J. Adams, Nishant Agrawal, Keun Soo Ahn, Sung-Min Ahn, Hiroshi Aikata, Rehan Akbani, Kadir Caner Akdemir, Hikmat A Al‐Ahmadie, Sultan T. Al‐Sedairy, Fátima Al‐Shahrour, Malik Alawi, , Johann Sebastian De Bono
This study identifies germline genetic variants influencing somatic mutation patterns in 2,642 cancer genomes across 39 cancer types.
Nature · Feb 5, 2020Peer-reviewedGenomics
Marta Paczkowska, Jonathan Barenboim, Nardnisa Sintupisut, Natalie S. Fox, Helen Zhu, Diala Abd-Rabbo, Miles W. Mee, Paul Christopher Boutros, PCAWG Drivers and Functional Interpretation Working Group, Federico Abascal, Samirkumar B. Amin, Gary D. Bader, Rameen Beroukhim, Johanna Bertl, Keith A. Boroevich, , Leonidas Salichos
ActivePathways integrates multivariate omics data to identify enriched pathways, revealing cancer driver genes and prognostic pathways in breast cancer.
Nature Communications · Feb 5, 2020Peer-reviewedBioinformatics
Myrthe Jager, Francis Blokzijl, Ewart Kuijk, Johanna Bertl, Maria Vougioukalaki, Roel Janssen, Nicolle J.M. Besselink, Sander Boymans, Joep de Ligt, Jakob Skou Pedersen, Jan H.J. Hoeijmakers, Joris Pothof, Ruben van Boxtel, Edwin P. J. G. Cuppen
The paper shows that NER deficiency increases Signature 8 mutations in specific tissues and suggests this could be a biomarker for NER-deficiency in cancer.
bioRxiv · Nov 15, 2018Molecular Biology
Johanna Bertl, Qianyun Guo, Malene Juul, Søren Besenbacher, Morten Muhlig Nielsen, Henrik Hornshøj, Jakob Skou Pedersen, Asger Hobolth
The paper develops a site-specific model to predict mutation rates in cancer genomes, showing it outperforms regional models by incorporating local genomic variables.
BMC Bioinformatics · Apr 19, 2018Peer-reviewedBioinformatics
Esther Rheinbay, Morten Muhlig Nielsen, Federico Abascal, Grace Tiao, Henrik Hornshøj, Julian M. Hess, Randi Istrup Pedersen, Lars Feuerbach, Radhakrishnan Sabarinathan, Tobias Lynge Madsen, Jaegil Kim, Loris Mularoni, Shimin Shuai, Andrés Lanzós, Carl Herrmann, , Gad A. Getz
The paper identifies and characterizes coding and non-coding driver mutations across 2,500 cancer genomes, revealing new candidates and questioning previous findings.
bioRxiv · Dec 23, 2017 · PreprintGenomics
Radhakrishnan Sabarinathan, Oriol Pich, Iñigo Martincorena, Carlota Rubio-Perez, Malene Juul, Jeremiah Wala, Steven Schumacher, Ofer Shapira, Nikos Sidiropoulos, Sebastian M. Waszak, David Tamborero, Loris Mularoni, Esther Rheinbay, Henrik Hornshøj, Jordi Deu-Pons, , on behalf of the PCAWG Drivers and Functional Interpretation Group and the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Network
This paper identifies driver mutations across 2,500 tumors from 37 cancer types, revealing a whole-genome panorama of genomic events that underlie tumor development.
bioRxiv · Dec 23, 2017 · PreprintCancer Biology