Bernardo Rodríguez-Martin, PhD student
One third of the human genome is composed by millions of short repetitive sequences called retrotransposons. Although most of them are not active, each human being bears in his genome around one hundred copies with the potential to become active and propagate through a copy-and-paste mechanism termed retrotransposition. Recent studies have revealed that these copies can become really active in some tumours, promoting extensive somatic structural variation in the tumour genome.
I investigate the role of retrotransposons in the origin and development of cancer, what includes:
- Discover cancer driver mutations mediated by retrotransposons in the tumour genome.
- Uncover novel mutational processes driven by aberrant L1 integration.
- Identify those L1 copies that become active in cancer and study their frequencies at population-level, as they constitute a potential form of cancer risk.
All this research is done through the computational analysis of thousands of tumour genomes within the framework of the International Cancer Genome consortium (ICGC).
- 2016-Present: PhD student at Mobile Genomes Group. Universidade de Vigo and Universidade de Santiago de Compostela.
- 2014-2016: Graduate Student at Computational Genomics Group. Barcelona Supercomputing Center.
- 2012-2014: MSc in Bioinformatics for Health Sciences. Universitat Pompeu Fabra.
- 2007-2012: BSc in Biology. Universidad de Oviedo.
ChimPipe. Computational method for the detection of fusion genes and transcription-induced chimeric transcripts from Illumina Paired-End RNA-seq data.
Pan-cancer analysis of whole genomes reveals driver rearrangements promoted by LINE-1 retrotransposition in human tumours
Bernardo Rodríguez-Martín, Eva G. Alvarez, Adrian Baez-Ortega et al.
bioRxiv posted August 24, 2017
Germline determinants of the somatic mutation landscape in 2,642 cancer genomes
Sebastian M. Waszak, Grace Tiao, Bin Zhu et al. (Includes Bernardo Rodríguez-Martín)
bioRxiv posted November 1, 2017
ChimPipe: accurate detection of fusion genes and transcription-induced chimeras from RNA-seq data
Bernardo Rodríguez-Martín, Emilio Palumbo, Santiago Marco-Sola et al.
BMC Genomics 2017 18:7
PUBMED: 28049418; DOI: 10.1186/s12864-016-3404-9