'We investigate the patterns and mechanisms of genomic variation in disease'

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:

All this research is done through the computational analysis of thousands of tumour genomes within the framework of the International Cancer Genome consortium (ICGC).

Short biography

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ChimPipe. Computational method for the detection of fusion genes and transcription-induced chimeric transcripts from Illumina Paired-End RNA-seq data.

Selected publications

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
doi: https://doi.org/10.1101/179705

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
doi: https://doi.org/10.1101/208330 

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